Zespół downa
Objawy

Zespół Downa (trisomia 21) jest najczęstszą genetyczną przyczyną niepełnosprawności intelektualnej, występującą u około 1 na 700-1000 urodzeń. Charakteryzuje się obecnością dodatkowego chromosomu 21, co prowadzi do specyficznych cech fenotypowych, takich jak hipotonia, charakterystyczne zmiany w budowie twarzy i kończyn oraz opóźniony rozwój motoryczny i intelektualny. IQ osób z zespołem Downa zwykle mieści się w zakresie 35-70, z przewagą łagodnej do umiarkowanej niepełnosprawności intelektualnej. Typowe są również opóźnienia w rozwoju mowy, pamięci krótkotrwałej, uwagi oraz umiejętności samoobsługowych. Średnia długość życia wzrosła do około 60 lat, jednak osoby te są narażone na liczne schorzenia współistniejące, w tym wrodzone wady serca (40-60%), zaburzenia neurologiczne (w tym chorobę Alzheimera u 50-70% osób po 60. roku życia), niedoczynność tarczycy (do 50% dorosłych), zwiększone ryzyko białaczek oraz problemy ze wzrokiem i słuchem (60-80% i 75% odpowiednio).

Charakterystyka Zespołu Downa

Zespół Downa (trisomia 21) to najczęściej występująca genetyczna przyczyna niepełnosprawności intelektualnej, dotykająca około 1 na 700-1000 urodzeń na całym świecie. Jest to zaburzenie chromosomalne spowodowane obecnością dodatkowego, pełnego lub częściowego, chromosomu 21 w genomie człowieka. Ta dodatkowa informacja genetyczna zmienia sposób, w jaki rozwija się ciało i mózg, powodując zarówno fizyczne, jak i umysłowe wyzwania o różnym nasileniu.123

Zespół Downa jest stanem wrodzonym i nie ma na niego lekarstwa, jednak dostępne są różne formy terapii i leczenia, które mogą pomóc w zarządzaniu objawami i poprawić jakość życia. Dzięki postępom w opiece medycznej, wczesnej interwencji i wsparciu, osoby z zespołem Downa mogą prowadzić zdrowe, satysfakcjonujące i długie życie – obecnie średnia długość życia wynosi około 60 lat.456

Objawy fizyczne Zespołu Downa

Osoby z zespołem Downa często mają charakterystyczne cechy fizyczne, które mogą być widoczne przy urodzeniu i stają się bardziej wyraźne wraz ze wzrostem dziecka. Należy jednak pamiętać, że nie wszystkie osoby z zespołem Downa wykazują wszystkie te cechy, a nasilenie objawów może znacznie się różnić.78

Cechy twarzoczaszki

Do charakterystycznych cech fizycznych twarzy należą:91011

  • Spłaszczona twarz, zwłaszcza nasada nosa
  • Skośne oczy skierowane ku górze
  • Epicanthus (fałdy skórne u wewnętrznego kącika oka)
  • Białe plamki na tęczówce oka (plamki Brushfielda)
  • Krótka szyja z nadmiarem skóry na karku
  • Małe uszy, często nisko osadzone
  • Mała głowa
  • Małe usta i nos
  • Wysunięty język

Cechy kończyn i tkanki łącznej

Charakterystyczne zmiany w budowie kończyn i tkanki łącznej to:121314

  • Obniżone napięcie mięśniowe (hipotonia) przy urodzeniu
  • Krótkie, szerokie dłonie z krótkimi palcami
  • Pojedyncza bruzda dłoniowa (bruzda poprzeczna dłoni)
  • Mały palec dłoni zakrzywiony w kierunku kciuka (klinodaktylia)
  • Zwiększona elastyczność stawów
  • Szeroka przestrzeń między pierwszym a drugim palcem stopy
  • Małe stopy
  • Krótszy wzrost niż przeciętny

Wzrost i rozwój fizyczny

Dzieci z zespołem Downa często doświadczają opóźnionego rozwoju fizycznego:151617

  • Przy urodzeniu dzieci mogą mieć normalną wielkość, ale rosną wolniej niż rówieśnicy
  • Opóźnione osiąganie kamieni milowych rozwoju, takich jak przewracanie się, siadanie, stanie i chodzenie
  • Opóźniony rozwój dużych i małych umiejętności motorycznych
  • Problemy z koordynacją ruchową
  • Trudności z chwytem i używaniem dłoni z powodu słabego napięcia mięśniowego

Dziecko z zespołem Downa średnio zaczyna chodzić między 15 a 36 miesiącem życia, podczas gdy dzieci bez tego zespołu zwykle zaczynają chodzić między 12 a 14 miesiącem.1819

Rozwój poznawczy i umiejętności intelektualne

Osoby z zespołem Downa doświadczają różnego stopnia niepełnosprawności intelektualnej, która najczęściej mieści się w zakresie od łagodnej do umiarkowanej. Tylko rzadko zespół Downa wiąże się z ciężką niepełnosprawnością intelektualną.2021

Poziom funkcjonowania intelektualnego

Osoby z zespołem Downa zwykle mają IQ w przedziale od 35 do 70, przy czym:2223

  • Większość ma łagodną (IQ 50-70) do umiarkowanej (IQ 35-50) niepełnosprawności intelektualnej
  • Osoby z mozaikowym zespołem Downa mogą mieć wyższe IQ (o 10-30 punktów)
  • Z wiekiem różnica między osobami z zespołem Downa a ich rówieśnikami może się powiększać

Opóźnienia rozwojowe

Dzieci z zespołem Downa często doświadczają opóźnień w osiąganiu kamieni milowych rozwojowych:242526

  • Opóźniony rozwój mowy i umiejętności językowych
  • Trudności z pamięcią, zwłaszcza pamięcią słowną krótkotrwałą
  • Problemy z uwagą i koncentracją
  • Problemy z rozumowaniem i podejmowaniem decyzji
  • Trudności z umiejętnościami numerycznymi (dzieci z zespołem Downa często mają większe trudności z opanowaniem umiejętności liczbowych niż z czytaniem)
  • Opóźnienia w nauce czynności samoobsługowych, takich jak korzystanie z toalety, samodzielne jedzenie, ubieranie się

Pomimo tych wyzwań, dzieci z zespołem Downa mogą uczyć się i rozwijać przez całe życie, choć mogą potrzebować więcej czasu na osiągnięcie określonych umiejętności. Z odpowiednim wsparciem, wiele osób z zespołem Downa kończy szkołę, niektórzy uczęszczają na studia i znajdują zatrudnienie.2728

Objawy behawioralne

Osoby z zespołem Downa mogą przejawiać charakterystyczne zachowania, które często wynikają z trudności w komunikacji i wyrażaniu potrzeb:2930

Typowe zachowania

Do typowych zachowań obserwowanych u osób z zespołem Downa należą:313233

  • Upór i napady złości
  • Trudności z utrzymaniem uwagi
  • Impulsywność i słaby osąd
  • Zachowania obsesyjne lub kompulsywne
  • Przywiązanie do rutyny
  • Mówienie do siebie (często jako sposób na zrozumienie i przetwarzanie informacji)

Wiele dzieci z zespołem Downa jest towarzyskich i otwartych, choć mogą mieć trudności z interpretacją sygnałów społecznych i odpowiednim zachowaniem w kontekście społecznym.3435

Zmiany zachowania z wiekiem

Z wiekiem mogą pojawić się dodatkowe problemy behawioralne:3637

  • U młodszych dzieci częściej obserwuje się nadaktywność i impulsywność
  • U starszych nastolatków i dorosłych częściej występuje wycofanie i lęk
  • Osoby dorosłe mogą doświadczać zmian osobowości związanych z wczesnym początkiem demencji

Problemy zdrowotne współwystępujące

Osoby z zespołem Downa są bardziej narażone na rozwój różnych problemów zdrowotnych. Nie wszystkie osoby doświadczą tych problemów, a ich nasilenie może się znacznie różnić.3839

Problemy kardiologiczne

Wady serca są jednymi z najczęstszych problemów zdrowotnych u osób z zespołem Downa:404142

Problemy neurologiczne

Zespół Downa wiąże się z różnymi problemami neurologicznymi:434445

  • Zaburzenia drgawkowe występują u 5-10% dzieci i do 50% dorosłych
  • Zwiększone ryzyko rozwoju choroby Alzheimera, często już w wieku 40 lat
  • Około 50-70% osób, które osiągają 60 lat, ma chorobę Alzheimera
  • Typowe jest stopniowe pogorszenie funkcji poznawczych wraz z wiekiem, zwykle zaczynające się około 50. roku życia

Problemy endokrynologiczne

Zaburzenia endokrynologiczne często występują u osób z zespołem Downa:464748

  • Niedoczynność tarczycy występuje u około 1% noworodków, 10% dzieci i do 50% dorosłych z zespołem Downa
  • Zwiększone ryzyko cukrzycy
  • Tendencja do otyłości z wiekiem
  • Problemy z metabolizmem i kontrolą wagi

Problemy immunologiczne i hematologiczne

Osoby z zespołem Downa mają zwiększone ryzyko rozwoju chorób związanych z układem odpornościowym i krwi:495051

  • Osłabiony układ odpornościowy, prowadzący do częstszych infekcji (w tym zapalenia płuc, infekcji ucha i układu oddechowego)
  • Zwiększone ryzyko białaczki, szczególnie ostrej białaczki limfoblastycznej (ALL) i ostrej białaczki szpikowej (AML)
  • Choroby autoimmunologiczne, w tym choroba trzewna

Problemy zmysłowe

Problemy ze wzrokiem i słuchem są powszechne:525354

Problemy przewodu pokarmowego

Zaburzenia układu pokarmowego występują u około 12% osób z zespołem Downa:555657

  • Atrezja lub zwężenie dwunastnicy (u około 2,5% noworodków)
  • Choroba refluksowa przełyku
  • Zaparcia
  • Choroba trzewna
  • Nietolerancja laktozy

Problemy oddechowe

Problemy z oddychaniem są częste u osób z zespołem Downa:585960

  • Obturacyjny bezdech senny (dotyczy 50-75% osób)
  • Astma
  • Zwiększona podatność na infekcje dróg oddechowych

Problemy ortopedyczne

Problemy z układem kostno-stawowym obejmują:6162

  • Niestabilność atlantoaksjalna (niestabilność stawu między pierwszym a drugim kręgiem szyjnym)
  • Koślawość kolan
  • Problemy ze stopami
  • Obniżona gęstość kości, zwiększające ryzyko osteoporozy

Zespół regresji w zespole Downa

Zespół regresji w zespole Downa (Down Syndrome Regression Disorder, DSRD) to rzadkie, ale poważne zaburzenie, które może wystąpić u niektórych nastolatków i młodych dorosłych z zespołem Downa. Charakteryzuje się nagłą utratą wcześniej nabytych umiejętności, która zazwyczaj następuje w ciągu kilku tygodni lub miesięcy.636465

Objawy zespołu regresji

Zespół regresji w zespole Downa charakteryzuje się szeregiem objawów, które można pogrupować w kilka klastrów. Diagnoza DSRD jest bardziej prawdopodobna, gdy osoba wykazuje objawy z co najmniej 4 z 8 klastrów:666768

  • Zmiany zachowania (jedzenie znacznie więcej lub mniej niż zwykle, dezorientacja, śmiech lub płacz w nieodpowiednich momentach)
  • Utrata umiejętności funkcjonalnych i społecznych (pogorszenie wcześniej nabytych umiejętności, jak samodzielne jedzenie, korzystanie z toalety, ubieranie się)
  • Trudności językowe (problemy z produkcją lub rozumieniem mowy, zwiększone trudności z czytaniem)
  • Objawy zdrowia psychicznego (nowy lub nasilony lęk, urojenia, halucynacje wzrokowe, depersonalizacja)
  • Problemy z poruszaniem się (brak ruchu, czasem ze sztywnymi i napiętymiśćniami)
  • Katatonia (znieruchomienie, sztywność mięśni, mutyzm)
  • Zaburzenia snu (trudności z zasypianiem lub utrzymaniem snu)
  • Dysfunkcja układu autonomicznego (zmiany w ciśnieniu krwi, tętnie, temperaturze ciała)

Diagnoza DSRD jest diagnozą wykluczającą – oznacza to, że inne potencjalne przyczyny regresji, takie jak problemy medyczne, muszą zostać wykluczone przed postawieniem tej diagnozy.69

Leczenie zespołu regresji

Leczenie DSRD może obejmować różne terapie, często stosowane jednocześnie:7071

  • Immunoterapia (np. dożylne immunoglobuliny)
  • Leki przeciwpsychotyczne przy objawach katatonii
  • Leki przeciwdepresyjne przy objawach depresji lub lęku
  • Terapia elektrowstrząsowa w ciężkich przypadkach
  • Terapia behawioralna i zajęciowa

Skuteczność leczenia jest różna – około 60-75% pacjentów wraca do stanu wyjściowego lub bliskiego wyjściowemu po leczeniu.72

Progresja i rokowanie

Zespół Downa jest stanem trwającym całe życie, jednak dzięki postępom w opiece medycznej i większej świadomości społecznej, perspektywy dla osób z zespołem Downa znacząco się poprawiły w ostatnich dekadach.7374

Długość życia

Średnia długość życia osób z zespołem Downa znacząco wzrosła:757677

  • W 1960 roku średnia długość życia wynosiła około 10 lat
  • Obecnie osoby z zespołem Downa żyją średnio 60 lat lub dłużej
  • Długość życia zależy od nasilenia problemów zdrowotnych

Jakość życia

Z odpowiednim wsparciem, osoby z zespołem Downa mogą prowadzić aktywne i satysfakcjonujące życie:787980

  • Wiele osób kończy szkołę, niektórzy uczęszczają na studia
  • Mogą znaleźć zatrudnienie i prowadzić względnie samodzielne życie
  • Osoby z zespołem Downa mogą budować relacje i uczestniczyć w życiu społecznym
  • Poziom samodzielności zależy od indywidualnych możliwości i dostępnego wsparcia

Starzenie się

Wraz z wiekiem osoby z zespołem Downa mogą doświadczać dodatkowych wyzwań:818283

  • Około 30% osób w wieku 50 lat rozwija demencję typu Alzheimera
  • Około 50% osób w wieku 60 lat ma demencję typu Alzheimera
  • Proces starzenia wydaje się być przyspieszony
  • Mogą pojawić się wcześniej zaćma, utrata słuchu, problemy z tarczycą, drgawki

Pomimo tych wyzwań, dzięki postępom w opiece medycznej i regularnym badaniom kontrolnym, wiele osób z zespołem Downa może prowadzić zdrowe i aktywne życie aż do starości.8485

Znaczenie wczesnej interwencji i wsparcia

Wczesne rozpoczęcie terapii i odpowiednie wsparcie mogą znacząco poprawić jakość życia i rozwój osób z zespołem Downa.868788

Terapie wspomagające

Różne formy terapii mogą pomóc w rozwoju dziecka z zespołem Downa:899091

  • Terapia fizyczna – pomaga poprawić siłę mięśniową, koordynację i umiejętności motoryczne
  • Terapia zajęciowa – wspiera rozwój umiejętności życia codziennego
  • Terapia mowy i języka – pomaga w rozwoju umiejętności komunikacyjnych
  • Wczesna interwencja edukacyjna – wspiera rozwój umysłowy i poznawczy

Monitorowanie zdrowia

Regularne badania kontrolne są kluczowe dla wykrywania i leczenia problemów zdrowotnych:929394

  • Badania serca – szczególnie ważne w przypadku wrodzonych wad serca
  • Badania tarczycy – do wykrywania niedoczynności tarczycy
  • Badania słuchu i wzroku – do wczesnego wykrywania problemów sensorycznych
  • Badania przesiewowe w kierunku choroby trzewnej i innych problemów jelitowych
  • Monitorowanie pod kątem obturacyjnego bezdechu sennego
  • Badania w kierunku niestabilności atlantoaksjalnej

Dzięki wczesnej interwencji medycznej, terapeutycznej i edukacyjnej, osoby z zespołem Downa mogą osiągnąć lepsze wyniki rozwojowe i zdrowotne, co przekłada się na lepszą jakość życia i większą samodzielność.9596

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  1. 09.04.2026
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Materiały źródłowe

  • #1 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. […] Common physical signs of Down syndrome include: Decreased or poor muscle tone, Short neck, with excess skin at the back of the neck, Flattened facial profile and nose, Small head, ears, and mouth, Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye, White spots on the colored part of the eye (called Brushfield spots), Wide, short hands with short fingers, A single, deep crease across the palm of the hand, A deep groove between the first and second toes. […] In addition, physical development in children with Down syndrome is often slower than development in children without Down syndrome. For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. Despite these delays, children with Down syndrome can learn to participate in physical exercise activities like other children. It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet many of these milestones.
  • #2 Down syndrome (trisomy 21) — Knowledge Hub
    https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/down-syndrome-trisomy-21/
    Down syndrome, or trisomy 21, is a multisystem genetic condition causing intellectual disability, a higher chance of congenital anomalies and other health problems. There are often recognisable physical features. […] Some of the signs and symptoms of Down syndrome are listed below. […] Craniofacial features: flattened facial profile; flattened nose; upslanting eyes; epicanthic folds; white spots on the iris (Brushfield spots); and short neck. […] Cardiac anomalies (found in up to 50% of cases): atrioventricular septal anomalies; ventricular septal anomalies; atrial septal anomalies; Tetralogy of Fallot; and patent ductus arteriosus. […] Visual symptoms: cataracts; strabismus; myopia; nystagmus; retinal anomalies; and iris anomalies. […] Hearing problems (conductive and/or sensorineural).
  • #3 Down syndrome: Causes, characteristics, is it genetic, and more
    https://www.medicalnewstoday.com/articles/145554
    Down syndrome is a genetic condition that occurs when an error in cell division results in an extra chromosome 21. It can affect a persons cognitive ability and physical growth, and there may be a higher risk of some health problems. […] Down syndrome can affect a persons cognitive ability and physical growth, cause varying developmental differences, and present a higher risk of some health problems. […] The characteristics of Down syndrome include low muscle tone, short stature, a flat nasal bridge, and a protruding tongue. […] People with Down syndrome usually have cognitive development profiles that suggest mild to moderate intellectual disability. However, cognitive development and intellectual ability are highly variable. […] People with Down syndrome also experience learning difficulties that lead to developmental delays. A person with Down syndrome has a specific pattern of cognitive and behavioral features. These differ from what is seen in typically developing children and children with other causes of intellectual disability.
  • #4 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Children born with Down syndrome lead happy and healthy lives with supportive care. Treatment and therapies can help them reach developmental milestones, gain an education with their peers, build relationships and have successful careers. […] No. Down syndrome is a lifelong condition, and there isn’t a cure. Symptoms of the condition are manageable, and treatment is available for any associated conditions that may arise. […] The life expectancy for a person diagnosed with Down syndrome is 60 or older. They may need support and care throughout their entire life.
  • #5 Down’s syndrome | NHS inform
    https://www.nhsinform.scot/illnesses-and-conditions/downs-syndrome/
    A baby with Downs syndrome is born with more of chromosome 21 in some or all of the cells that make up their DNA. Its also known as Trisomy 21. […] Most will have mild to moderate learning disabilities and some may have more complex needs. […] Some health conditions can be more common in people with Downs syndrome, but some are less common. […] Around half of all children with Downs syndrome will have heart issues, although fewer than 1 in 5 of those may need surgery. […] Theyre more likely to have muscle tone and digestion issues and may have reduced hearing or vision. […] Downs syndrome is not a life-limiting condition. People with the condition can lead active, healthy and fairly independent lives into their 60s, 70s and beyond.
  • #6 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Health concerns that result from having Down syndrome can be mild, moderate or severe. Some children with Down syndrome are healthy, while others may have serious health problems. Some health concerns may become more of a problem as the person gets older. […] Over the years, there have been advances in healthcare for children and adults with Down syndrome. Because of these advances, children born today with Down syndrome are likely to live a longer life than in the past. People with Down syndrome can expect to live more than 60 years, depending on how severe their health problems are.
  • #7 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #8 Down Syndrome | Birth Defects | CDC
    https://www.cdc.gov/birth-defects/about/down-syndrome.html
    Down syndrome is a condition in which a person has an extra copy of chromosome 21. Chromosomes are small „packages” of genes in the body’s cells, which determine how the body forms and functions. […] When babies are growing, the extra chromosome changes how their body and brain develop. This can cause both physical and mental challenges. […] People with Down syndrome often have developmental challenges, such as being slower to learn to speak than other children. […] Distinct physical signs of Down syndrome are usually present at birth and become more apparent as the baby grows. They can include facial features, such as a flattened face, especially the bridge of the nose, almond-shaped eyes that slant up, and a tongue that tends to stick out of the mouth. […] Other physical signs can include a short neck, small ears, hands, and feet, a single line across the palm of the hand (palmar crease), small pinky fingers, poor muscle tone or loose joints, and shorter-than-average height. […] Some people with Down syndrome have other medical problems as well. Common health problems include congenital heart defects, hearing loss, and obstructive sleep apnea.
  • #9 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #10 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. […] Common physical signs of Down syndrome include: Decreased or poor muscle tone, Short neck, with excess skin at the back of the neck, Flattened facial profile and nose, Small head, ears, and mouth, Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye, White spots on the colored part of the eye (called Brushfield spots), Wide, short hands with short fingers, A single, deep crease across the palm of the hand, A deep groove between the first and second toes. […] In addition, physical development in children with Down syndrome is often slower than development in children without Down syndrome. For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. Despite these delays, children with Down syndrome can learn to participate in physical exercise activities like other children. It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet many of these milestones.
  • #11 Down Syndrome | Birth Defects | CDC
    https://www.cdc.gov/birth-defects/about/down-syndrome.html
    Down syndrome is a condition in which a person has an extra copy of chromosome 21. Chromosomes are small „packages” of genes in the body’s cells, which determine how the body forms and functions. […] When babies are growing, the extra chromosome changes how their body and brain develop. This can cause both physical and mental challenges. […] People with Down syndrome often have developmental challenges, such as being slower to learn to speak than other children. […] Distinct physical signs of Down syndrome are usually present at birth and become more apparent as the baby grows. They can include facial features, such as a flattened face, especially the bridge of the nose, almond-shaped eyes that slant up, and a tongue that tends to stick out of the mouth. […] Other physical signs can include a short neck, small ears, hands, and feet, a single line across the palm of the hand (palmar crease), small pinky fingers, poor muscle tone or loose joints, and shorter-than-average height. […] Some people with Down syndrome have other medical problems as well. Common health problems include congenital heart defects, hearing loss, and obstructive sleep apnea.
  • #12 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. […] Common physical signs of Down syndrome include: Decreased or poor muscle tone, Short neck, with excess skin at the back of the neck, Flattened facial profile and nose, Small head, ears, and mouth, Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye, White spots on the colored part of the eye (called Brushfield spots), Wide, short hands with short fingers, A single, deep crease across the palm of the hand, A deep groove between the first and second toes. […] In addition, physical development in children with Down syndrome is often slower than development in children without Down syndrome. For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. Despite these delays, children with Down syndrome can learn to participate in physical exercise activities like other children. It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet many of these milestones.
  • #13 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #14 Symptoms and Characteristics of Down Syndrome
    https://www.verywellhealth.com/symptoms-of-down-syndrome-1120463
    Down syndrome (trisomy 21) is a genetic disorder that affects about one in 700 newborns. This extra copy changes how the baby’s body and brain develop, which can cause both intellectual and physical challenges for the person. […] People with Down syndrome share a host of recognizable facial and physical features. These are most apparent at birth and can become more pronounced with time. The more obvious characteristics of Down syndrome include a round face, with a flat profile and small nose and mouth, a large tongue that may protrude from the mouth, almond-shaped eyes with skin that covers the inner eye (epicanthus folds), white flecks in the colored part of the eyes (Brushfield spots), small ears, a small head that’s somewhat flat in the back (brachycephaly), short neck, clinodactyly, small feet with a larger than normal space between the big and second toes, and a short, stocky build. At birth, children with Down syndrome usually are average size, but tend to grow at a slower rate and remain smaller than other kids their age.
  • #15 Down Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/down-syndrome.html
    Down syndrome is a condition in which a baby is born with an extra chromosome number 21. The extra chromosome is associated with delays in the child’s mental and physical development, as well as an increased risk for health problems. […] The physical features and medical problems linked to Down syndrome can vary widely from child to child. […] Low muscle tone (called hypotonia) is also common in kids with Down syndrome but is less obvious as they get older. Children will reach developmental milestones, like sitting up, crawling, and walking, though typically later than other kids do. […] At birth, babies with Down syndrome are often smaller than other newborns, and they tend to grow at a slower rate and remain shorter than their peers. […] Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and using the toilet.
  • #16 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Down syndrome varies in severity among individuals. The condition causes lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal cause of intellectual disabilities in children. It also commonly causes other medical conditions, including heart and digestive system problems. […] Each person with Down syndrome is an individual. Problems with intellect and development are usually mild to moderate. Some people are healthy while others have serious health issues such as heart problems that are present at birth. […] Children with Down syndrome take longer to reach developmental milestones, such as sitting, talking and walking. Occupational therapy, physical therapy, and speech and language therapy can help improve physical functioning and speech. […] Most children with Down syndrome have mild to moderate cognitive impairment. This means that they have problems with memory, learning new things, focusing and thinking, or making decisions that affect their everyday life. Language and speech are delayed.
  • #17 Down Syndrome | Birth Defects | CDC
    https://www.cdc.gov/birth-defects/about/down-syndrome.html
    Down syndrome is a condition in which a person has an extra copy of chromosome 21. Chromosomes are small „packages” of genes in the body’s cells, which determine how the body forms and functions. […] When babies are growing, the extra chromosome changes how their body and brain develop. This can cause both physical and mental challenges. […] People with Down syndrome often have developmental challenges, such as being slower to learn to speak than other children. […] Distinct physical signs of Down syndrome are usually present at birth and become more apparent as the baby grows. They can include facial features, such as a flattened face, especially the bridge of the nose, almond-shaped eyes that slant up, and a tongue that tends to stick out of the mouth. […] Other physical signs can include a short neck, small ears, hands, and feet, a single line across the palm of the hand (palmar crease), small pinky fingers, poor muscle tone or loose joints, and shorter-than-average height. […] Some people with Down syndrome have other medical problems as well. Common health problems include congenital heart defects, hearing loss, and obstructive sleep apnea.
  • #18 Down Syndrome Guide: Causes, Symptoms and Treatment Options
    https://www.drugs.com/health-guide/down-syndrome.html
    Down syndrome is a disorder caused by a problem with the chromosomes — the pieces of DNA that have the blueprint for the human body. Normally a person has two copies of each chromosome, but a person with Down syndrome has three copies of chromosome 21. The condition also is called trisomy 21. […] The extra DNA makes the physical and mental characteristics of Down syndrome, which include a small head that is flattened in the back; slanted eyes; extra skin folds at the corners of the eyes; small ears, nose and mouth; big-looking tongue; short stature; small hands and feet; and some degree of mental disability. […] In addition to the characteristic physical features and decreased mental abilities, other health problems frequently are seen in people with Down syndrome. These include: Hearing deficits, Heart problems, Intestinal abnormalities, Eye problems, Low levels of thyroid hormone, Skeletal problems such as joint instability, Poor weight gain in infants, Kidney and urinary tract anomalies.
  • #19 Down syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Down_syndrome
    Those with Down syndrome nearly always have physical and intellectual disabilities. As adults, their mental abilities are typically similar to those of an 8- or 9-year-old. At the same time, their emotional and social awareness is very high. They can have poor immune function and generally reach developmental milestones at a later age. They have an increased risk of a number of health concerns, such as congenital heart defect, epilepsy, leukemia, and thyroid diseases. […] This syndrome causes about a third of cases of intellectual disability. Many developmental milestones are delayed with the ability to crawl typically occurring around 8-22 months rather than 6-12 months, and the ability to walk independently typically occurring around 14 years rather than 9-18 months. Walking is acquired in 50% of children after 24 months.
  • #20 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    Cognitive impairment, or problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Only rarely is Down syndrome associated with severe cognitive impairment. […] Other common cognitive and behavioral problems may include: Short attention span, Poor judgment, Impulsive behavior, Slow learning, Delayed language and speech development. […] Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.
  • #21 Down Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/down-syndrome
    Down syndrome can affect children physically, cognitively, and behaviorally. Every child with the condition is unique and may possess the following characteristics to different degrees, or not at all. […] Most children with Down syndrome meet developmental milestones later than other children, including the ability to walk and talk. They often have mild to moderate intellectual disability and may have specific challenges with attention span, verbal memory, and expressive communication. […] Children with Down syndrome can have a variety of health issues. About half are born with a congenital heart defect, a structural problem with the heart that develops during pregnancy. […] Most children with Down syndrome have some level of intellectual disability usually in the mild to moderate range. People with mild intellectual disability are usually able to learn how to do everyday things like read, hold a job, and take public transportation on their own. People with moderate intellectual disability usually need more support.
  • #22 Down syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Down_syndrome
    Most individuals with Down syndrome have mild (IQ: 50-69) or moderate (IQ: 35-50) intellectual disability with some cases having severe (IQ: 20-35) difficulties. Those with mosaic Down syndrome typically have IQ scores 10-30 points higher than that. As they age, the gap tends to widen between people with Down syndrome and their same-age peers. […] Commonly, individuals with Down syndrome have better language understanding than ability to speak. Babbling typically emerges around 15 months on average. 10-45% of those with Down syndrome have either a stutter or rapid and irregular speech, making it difficult to understand them. After reaching 30 years of age, some may lose their ability to speak. […] Children and adults with Down syndrome are at increased risk of epileptic seizures, which occur in 5-10% of children and up to 50% of adults. This includes an increased risk of a specific type of seizure called infantile spasms. Many (15%) who live 40 years or longer develop Alzheimer’s disease. In those who reach 60 years of age, 50-70% have the disease. […] Down syndrome regression disorder is a sudden regression with neuropsychiatric symptoms such as catatonia, possibly caused by an autoimmune disease. It primarily appears in teenagers and younger adults.
  • #23 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Down-Syndrome-Symptoms.aspx
    Growth parameters including height, weight, and head circumference are smaller in children with Downs syndrome. […] Other symptoms include: Intellectual disability in most children with Downs syndrome is mild (IQ 50 to 70) to moderate (IQ 35 to 50), Language skills and speech may be slow to develop, and reading and understanding are also delayed, Development of fine motor skills may be delayed, as well as gross motor skills causing problems with sitting, standing, climbing and jumping, Some children may also develop autism spectrum disorders or attention deficit hyperactivity disorder (ADHD). […] Examples of severe conditions infants with Downs syndrome may be at risk of include heart defects and intestinal abnormalities. […] The most common complication in children with Downs syndrome is a septal defect, where there is a hole in one of the walls that separates the hearts chambers. […] The life expectancy of people with Downs syndrome has increased significantly. In 2007, it was estimated that on average people with Downs syndrome would have a life expectancy of 47 years.
  • #24 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Your child with Down syndrome may have cognitive development challenges as a result of their extra chromosome. This can cause intellectual or developmental disabilities. Your child’s ability to meet developmental milestones, or things that your child can do at a certain age, may differ from other children, including how they: Walk and move (gross and fine motor skills). Speak (language development skills). Learn (cognitive skills). Play (social and emotional skills). […] As a result, it may take your child longer to do the following things: Toilet training. Speaking their first words. Taking their first steps. Eating food independently. […] Your child diagnosed with Down syndrome may exhibit behavioral symptoms. This can be the result of your child not being able to communicate their needs to you or their caregivers effectively. Behavioral symptoms of Down syndrome could include: Stubbornness and tantrums. Difficulty paying attention. Obsessive or compulsive behaviors.
  • #25 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Down syndrome varies in severity among individuals. The condition causes lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal cause of intellectual disabilities in children. It also commonly causes other medical conditions, including heart and digestive system problems. […] Each person with Down syndrome is an individual. Problems with intellect and development are usually mild to moderate. Some people are healthy while others have serious health issues such as heart problems that are present at birth. […] Children with Down syndrome take longer to reach developmental milestones, such as sitting, talking and walking. Occupational therapy, physical therapy, and speech and language therapy can help improve physical functioning and speech. […] Most children with Down syndrome have mild to moderate cognitive impairment. This means that they have problems with memory, learning new things, focusing and thinking, or making decisions that affect their everyday life. Language and speech are delayed.
  • #26 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    Cognitive impairment, or problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Only rarely is Down syndrome associated with severe cognitive impairment. […] Other common cognitive and behavioral problems may include: Short attention span, Poor judgment, Impulsive behavior, Slow learning, Delayed language and speech development. […] Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.
  • #27 Down Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/down-syndrome
    Many children with Down syndrome can participate in regular classrooms, though they may need extra help or modifications. Thanks to widespread special education and community programs, more and more people with Down syndrome graduate from high school, attend college, and work in their communities. […] Behavioral problems such as stubbornness, impulsivity, and temper tantrums may be more common in children with Down syndrome. Many children talk out loud to themselves as a way of understanding and processing information. […] The average life span for people with Down syndrome has increased dramatically since the early 1900s. On average, people with Down syndrome live to about 55 to 60 years of age and some live into the 70s or 80s.
  • #28 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Children born with Down syndrome lead happy and healthy lives with supportive care. Treatment and therapies can help them reach developmental milestones, gain an education with their peers, build relationships and have successful careers. […] No. Down syndrome is a lifelong condition, and there isn’t a cure. Symptoms of the condition are manageable, and treatment is available for any associated conditions that may arise. […] The life expectancy for a person diagnosed with Down syndrome is 60 or older. They may need support and care throughout their entire life.
  • #29 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Your child with Down syndrome may have cognitive development challenges as a result of their extra chromosome. This can cause intellectual or developmental disabilities. Your child’s ability to meet developmental milestones, or things that your child can do at a certain age, may differ from other children, including how they: Walk and move (gross and fine motor skills). Speak (language development skills). Learn (cognitive skills). Play (social and emotional skills). […] As a result, it may take your child longer to do the following things: Toilet training. Speaking their first words. Taking their first steps. Eating food independently. […] Your child diagnosed with Down syndrome may exhibit behavioral symptoms. This can be the result of your child not being able to communicate their needs to you or their caregivers effectively. Behavioral symptoms of Down syndrome could include: Stubbornness and tantrums. Difficulty paying attention. Obsessive or compulsive behaviors.
  • #30 Down Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/down-syndrome
    Many children with Down syndrome can participate in regular classrooms, though they may need extra help or modifications. Thanks to widespread special education and community programs, more and more people with Down syndrome graduate from high school, attend college, and work in their communities. […] Behavioral problems such as stubbornness, impulsivity, and temper tantrums may be more common in children with Down syndrome. Many children talk out loud to themselves as a way of understanding and processing information. […] The average life span for people with Down syndrome has increased dramatically since the early 1900s. On average, people with Down syndrome live to about 55 to 60 years of age and some live into the 70s or 80s.
  • #31 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    Cognitive impairment, or problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Only rarely is Down syndrome associated with severe cognitive impairment. […] Other common cognitive and behavioral problems may include: Short attention span, Poor judgment, Impulsive behavior, Slow learning, Delayed language and speech development. […] Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.
  • #32 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Your child with Down syndrome may have cognitive development challenges as a result of their extra chromosome. This can cause intellectual or developmental disabilities. Your child’s ability to meet developmental milestones, or things that your child can do at a certain age, may differ from other children, including how they: Walk and move (gross and fine motor skills). Speak (language development skills). Learn (cognitive skills). Play (social and emotional skills). […] As a result, it may take your child longer to do the following things: Toilet training. Speaking their first words. Taking their first steps. Eating food independently. […] Your child diagnosed with Down syndrome may exhibit behavioral symptoms. This can be the result of your child not being able to communicate their needs to you or their caregivers effectively. Behavioral symptoms of Down syndrome could include: Stubbornness and tantrums. Difficulty paying attention. Obsessive or compulsive behaviors.
  • #33 Down Syndrome: Causes, Symptoms, Diagnosis, and Treatment
    https://www.webmd.com/children/understanding-down-syndrome-basics
    Down syndrome can have many effects, and its different for each person. Some will grow up to live almost entirely on their own, while others will need more help taking care of themselves. […] Mental abilities vary, but most people with Down syndrome have mild to moderate issues with thinking, reasoning, and understanding. Theyll learn and pick up new skills their whole lives, but they may take longer to reach important goals like walking, talking, and developing social skills. […] People with Down syndrome may also have trouble with behavior they may not pay attention well, or can be obsessive about some things. Thats because its harder for them to control their impulses, relate to others, and manage their feelings when they get frustrated. […] As adults, people with Down syndrome may learn to decide many things on their own but will likely need help with more complex issues, like birth control or managing money. Some may go to a college that can provide accommodations and modifications tailored to developmental and intellectual delays and may go on to live independently, while others will need more day-to-day care.
  • #34 Down Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/down-syndrome
    Many children with Down syndrome can participate in regular classrooms, though they may need extra help or modifications. Thanks to widespread special education and community programs, more and more people with Down syndrome graduate from high school, attend college, and work in their communities. […] Behavioral problems such as stubbornness, impulsivity, and temper tantrums may be more common in children with Down syndrome. Many children talk out loud to themselves as a way of understanding and processing information. […] The average life span for people with Down syndrome has increased dramatically since the early 1900s. On average, people with Down syndrome live to about 55 to 60 years of age and some live into the 70s or 80s.
  • #35 The Different Types of Down Syndrome
    https://www.everydayhealth.com/down-syndrome/definition-different-types-down-syndrome/
    Intellectual disabilities are also common. There can be effects on learning and memory, and specifically the ability to form long-term memories, Heller says. […] We certainly see some kids who are less affected than others, but we shy away from terms like low-functioning and high-functioning, Pipan explains. Some children with Down syndrome have a hard time learning to walk, and others have no problem running and jumping and riding a bike. Likewise, some individuals with Down syndrome may struggle to learn to read while others dont, she says. […] Pipan emphasizes that there are also positive characteristics associated with Down syndrome. Children with Down syndrome are generally really social and outgoing, for example, she says. […] Every individual with Down syndrome has their own strengths and weaknesses, she adds. Given the right support, they can accomplish a lot.
  • #36 Down’s syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice
    https://bestpractice.bmj.com/topics/en-gb/700
    Down’s syndrome is the most common genetic cause of cognitive or intellectual disability, with an incidence of 1 in 800-1000 births worldwide. […] Characteristic physical features include brachycephaly with a flat occiput; epicanthal folds and upslanting palpebral fissures; Brushfield spots in the iris; low nasal bridge; low-set ears; broad neck; and small hands with transverse crease. […] Individuals with Down’s syndrome have a higher frequency of congenital and acquired medical conditions, including congenital heart defects and audiological, vision, gastrointestinal, haematological, and thyroid issues. […] Global developmental delay is common; however, cognitive abilities vary greatly, with IQ typically ranging from mild to moderate intellectual disability. […] Behavioural difficulties, if present, tend to be age-related (e.g., hyperactivity and impulsiveness in younger children; withdrawal and anxiety in older adolescents and adults).
  • #37 Down syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Down_syndrome
    Most individuals with Down syndrome have mild (IQ: 50-69) or moderate (IQ: 35-50) intellectual disability with some cases having severe (IQ: 20-35) difficulties. Those with mosaic Down syndrome typically have IQ scores 10-30 points higher than that. As they age, the gap tends to widen between people with Down syndrome and their same-age peers. […] Commonly, individuals with Down syndrome have better language understanding than ability to speak. Babbling typically emerges around 15 months on average. 10-45% of those with Down syndrome have either a stutter or rapid and irregular speech, making it difficult to understand them. After reaching 30 years of age, some may lose their ability to speak. […] Children and adults with Down syndrome are at increased risk of epileptic seizures, which occur in 5-10% of children and up to 50% of adults. This includes an increased risk of a specific type of seizure called infantile spasms. Many (15%) who live 40 years or longer develop Alzheimer’s disease. In those who reach 60 years of age, 50-70% have the disease. […] Down syndrome regression disorder is a sudden regression with neuropsychiatric symptoms such as catatonia, possibly caused by an autoimmune disease. It primarily appears in teenagers and younger adults.
  • #38 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Health concerns that result from having Down syndrome can be mild, moderate or severe. Some children with Down syndrome are healthy, while others may have serious health problems. Some health concerns may become more of a problem as the person gets older. […] Over the years, there have been advances in healthcare for children and adults with Down syndrome. Because of these advances, children born today with Down syndrome are likely to live a longer life than in the past. People with Down syndrome can expect to live more than 60 years, depending on how severe their health problems are.
  • #39 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #40 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #41 Down Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/down-syndrome.html
    Down syndrome affects kids’ ability to learn in different ways, and most have mild to moderate intellectual disability. […] Almost half of all children born with Down syndrome will have a congenital heart defect. […] About half of all kids also have problems with hearing and vision. […] Medical problems that happen more often with Down syndrome include thyroid problems (usually hypothyroidism), stomach and intestinal problems, including celiac disease, reflux, and constipation, seizures, breathing problems, including sleep apnea and asthma, obesity, infections, including ear infections and pneumonia, childhood leukemia. […] People with Down syndrome sometimes have an unstable upper spine (neck) and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, changes to their walking, or unexpected loss of bladder or bowel control.
  • #42 Patient education: Down syndrome (Beyond the Basics) – UpToDate
    https://www.uptodate.com/contents/down-syndrome-beyond-the-basics
    Down syndrome is the most common form of intellectual disability in the world. It occurs in approximately 1 out of every 1000 babies born alive, and it is caused by a genetic abnormality that affects something called a chromosome. […] People with Down syndrome are born with three, rather than two, copies of chromosome 21. […] Aside from its effects on appearance, Down syndrome can cause a number of medical complications. Some of these complications are more serious than others, but most of them can be treated. […] The most serious complications of Down syndrome include heart defects, blood disorders that can include leukemia (cancer of the blood), and immune system problems. […] Approximately half of all babies with Down syndrome are born with (often repairable) heart defects. […] Down syndrome can cause blood cell abnormalities, including a form of blood cancer called leukemia.
  • #43 Down syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/down-syndrome/
    Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. […] People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer’s disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer’s disease. Although Alzheimer’s disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.
  • #44 Down syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Down_syndrome
    Most individuals with Down syndrome have mild (IQ: 50-69) or moderate (IQ: 35-50) intellectual disability with some cases having severe (IQ: 20-35) difficulties. Those with mosaic Down syndrome typically have IQ scores 10-30 points higher than that. As they age, the gap tends to widen between people with Down syndrome and their same-age peers. […] Commonly, individuals with Down syndrome have better language understanding than ability to speak. Babbling typically emerges around 15 months on average. 10-45% of those with Down syndrome have either a stutter or rapid and irregular speech, making it difficult to understand them. After reaching 30 years of age, some may lose their ability to speak. […] Children and adults with Down syndrome are at increased risk of epileptic seizures, which occur in 5-10% of children and up to 50% of adults. This includes an increased risk of a specific type of seizure called infantile spasms. Many (15%) who live 40 years or longer develop Alzheimer’s disease. In those who reach 60 years of age, 50-70% have the disease. […] Down syndrome regression disorder is a sudden regression with neuropsychiatric symptoms such as catatonia, possibly caused by an autoimmune disease. It primarily appears in teenagers and younger adults.
  • #45 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    Seizure disorders are present in 5-10% or patients. Infantile spasms are the most common seizures observed in infancy, whereas tonic-clonic seizures are most common in older patients. […] Decreased skin tone, early graying or loss of hair, hypogonadism, cataracts, hearing loss, age-related increase in hypothyroidism, seizures, neoplasms, degenerative vascular disease, loss of adaptive abilities, and increased risk of senile dementia of Alzheimer type are observed. […] Gastrointestinal (GI) abnormalities occur in approximately 12% of patients. Duodenal atresia or stenosis (occasionally associated with annular pancreas) may be seen in 2.5% of newborns with Down syndrome. […] Hypothyroidism is common in Down syndrome, occurring in about 1% of newborns, 10% of children, and up to 50% of adults. Causes include congenital hypothyroidism as well as acquired hypothyroidism secondary to Hashimoto thyroiditis.
  • #46 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #47 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    Seizure disorders are present in 5-10% or patients. Infantile spasms are the most common seizures observed in infancy, whereas tonic-clonic seizures are most common in older patients. […] Decreased skin tone, early graying or loss of hair, hypogonadism, cataracts, hearing loss, age-related increase in hypothyroidism, seizures, neoplasms, degenerative vascular disease, loss of adaptive abilities, and increased risk of senile dementia of Alzheimer type are observed. […] Gastrointestinal (GI) abnormalities occur in approximately 12% of patients. Duodenal atresia or stenosis (occasionally associated with annular pancreas) may be seen in 2.5% of newborns with Down syndrome. […] Hypothyroidism is common in Down syndrome, occurring in about 1% of newborns, 10% of children, and up to 50% of adults. Causes include congenital hypothyroidism as well as acquired hypothyroidism secondary to Hashimoto thyroiditis.
  • #48 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Down-Syndrome-Symptoms.aspx
    Growth parameters including height, weight, and head circumference are smaller in children with Downs syndrome. […] Other symptoms include: Intellectual disability in most children with Downs syndrome is mild (IQ 50 to 70) to moderate (IQ 35 to 50), Language skills and speech may be slow to develop, and reading and understanding are also delayed, Development of fine motor skills may be delayed, as well as gross motor skills causing problems with sitting, standing, climbing and jumping, Some children may also develop autism spectrum disorders or attention deficit hyperactivity disorder (ADHD). […] Examples of severe conditions infants with Downs syndrome may be at risk of include heart defects and intestinal abnormalities. […] The most common complication in children with Downs syndrome is a septal defect, where there is a hole in one of the walls that separates the hearts chambers. […] The life expectancy of people with Downs syndrome has increased significantly. In 2007, it was estimated that on average people with Downs syndrome would have a life expectancy of 47 years.
  • #49 Down Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/down-syndrome.html
    Down syndrome affects kids’ ability to learn in different ways, and most have mild to moderate intellectual disability. […] Almost half of all children born with Down syndrome will have a congenital heart defect. […] About half of all kids also have problems with hearing and vision. […] Medical problems that happen more often with Down syndrome include thyroid problems (usually hypothyroidism), stomach and intestinal problems, including celiac disease, reflux, and constipation, seizures, breathing problems, including sleep apnea and asthma, obesity, infections, including ear infections and pneumonia, childhood leukemia. […] People with Down syndrome sometimes have an unstable upper spine (neck) and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, changes to their walking, or unexpected loss of bladder or bowel control.
  • #50 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    Seizure disorders are present in 5-10% or patients. Infantile spasms are the most common seizures observed in infancy, whereas tonic-clonic seizures are most common in older patients. […] Decreased skin tone, early graying or loss of hair, hypogonadism, cataracts, hearing loss, age-related increase in hypothyroidism, seizures, neoplasms, degenerative vascular disease, loss of adaptive abilities, and increased risk of senile dementia of Alzheimer type are observed. […] Gastrointestinal (GI) abnormalities occur in approximately 12% of patients. Duodenal atresia or stenosis (occasionally associated with annular pancreas) may be seen in 2.5% of newborns with Down syndrome. […] Hypothyroidism is common in Down syndrome, occurring in about 1% of newborns, 10% of children, and up to 50% of adults. Causes include congenital hypothyroidism as well as acquired hypothyroidism secondary to Hashimoto thyroiditis.
  • #51 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    The most significant hematologic abnormality in Down syndrome involves white blood cells. Children with Down syndrome are at higher risk for leukemias, particularly acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), with acute megakaryocytic leukemia being the most common form of AML in these children. […] Patients have about a 12-fold increased risk for infectious diseases, especially pneumonia, because of impaired cellular immunity. […] Psychiatric disorders are reported in 13-17.6% of children with Down syndrome; these conditions include common psychiatric disorders such as depression, anxiety, obsessive-compulsive disorder, schizophrenia, and anorexia nervosa.
  • #52 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #53 Down Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/down-syndrome.html
    Down syndrome affects kids’ ability to learn in different ways, and most have mild to moderate intellectual disability. […] Almost half of all children born with Down syndrome will have a congenital heart defect. […] About half of all kids also have problems with hearing and vision. […] Medical problems that happen more often with Down syndrome include thyroid problems (usually hypothyroidism), stomach and intestinal problems, including celiac disease, reflux, and constipation, seizures, breathing problems, including sleep apnea and asthma, obesity, infections, including ear infections and pneumonia, childhood leukemia. […] People with Down syndrome sometimes have an unstable upper spine (neck) and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, changes to their walking, or unexpected loss of bladder or bowel control.
  • #54 Trisomy 21/Down Syndrome – EyeWiki
    https://eyewiki.org/Trisomy_21/Down_Syndrome
    Down (or Downs) syndrome (trisomy 21) is the most common chromosomal anomaly in children. This syndrome is typically marked by a characteristic facial appearance, short stature, intellectual disability, and cardiac anomalies. Children with Down syndrome are at increased risk for a variety of ophthalmic disorders, including strabismus, high refractive error, keratoconus, accommodative insufficiency, cataracts, nasolacrimal duct obstruction, blepharitis, and nystagmus. […] The reported prevalence of ophthalmic disorders in Down syndrome patients ranges from 46% to 100%. The incidence of associated eye disease requiring monitoring or intervention increases with age, from 38% of children with Down syndrome 1 year old to 80% of 5 to 7 year-old children. […] Strabismus, especially esodeviation, is common in children with Down syndrome. The prevalence of strabismus in Down syndrome ranges from 5% to 47%.
  • #55 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #56 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    Seizure disorders are present in 5-10% or patients. Infantile spasms are the most common seizures observed in infancy, whereas tonic-clonic seizures are most common in older patients. […] Decreased skin tone, early graying or loss of hair, hypogonadism, cataracts, hearing loss, age-related increase in hypothyroidism, seizures, neoplasms, degenerative vascular disease, loss of adaptive abilities, and increased risk of senile dementia of Alzheimer type are observed. […] Gastrointestinal (GI) abnormalities occur in approximately 12% of patients. Duodenal atresia or stenosis (occasionally associated with annular pancreas) may be seen in 2.5% of newborns with Down syndrome. […] Hypothyroidism is common in Down syndrome, occurring in about 1% of newborns, 10% of children, and up to 50% of adults. Causes include congenital hypothyroidism as well as acquired hypothyroidism secondary to Hashimoto thyroiditis.
  • #57 Gastrointestinal and Diabetes – Downs Syndrome Association
    https://www.downs-syndrome.org.uk/about-downs-syndrome/health-and-wellbeing/gastrointestinal-and-diabetes/
    Children who have Downs syndrome may be more susceptible to digestive difficulties such as reflux, diarrhoea and constipation. […] Symptoms of Coeliac disease include bowel problems, tiredness or a change in behaviour. […] Type 1 diabetes is more common in people who have Downs syndrome. […] The symptoms of diabetes may be subtle and come on gradually. People may not be able to recognise or tell you about their symptoms. […] These are some of the main symptoms of diabetes to look out for: Increased thirst (polydipsia), Passing urine more often especially at night (polyuria), Extreme tiredness, Weight loss (in Type 1 diabetes), Blurred vision.
  • #58 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. […] Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height. […] As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: Ear infections or hearing loss. Vision problems or eye diseases. Dental problems. Being more prone to infections or illnesses. Obstructive sleep apnea. Congenital heart disease.
  • #59 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    When evaluating a patient with Down syndrome, a thorough history is essential. Moreover, parental concerns provide insight into specific health issues, including hearing and vision problems, developmental delays, frequent infections, and other common conditions in Down syndrome. […] Developmental delays should be recorded, focusing on cognitive, motor, language, and social development. Tracking any therapies received is essential for understanding progress and planning further interventions. […] Cardiac symptoms and history of surgeries are crucial given the prevalence of congenital heart defects in Down syndrome. Symptoms like arrhythmia, fainting, or chest pain prompt review of past cardiac evaluations and treatments. […] Sleep apnea symptoms, including snoring, restlessness, and daytime sleepiness, are significant, as airway issues are common. Surgical history, such as adenotonsillectomy, may be relevant to managing airway obstructions.
  • #60 Patient education: Down syndrome (Beyond the Basics) – UpToDate
    https://www.uptodate.com/contents/down-syndrome-beyond-the-basics
    Nearly 80 percent of people with Down syndrome develop some degree of hearing impairment, sometimes requiring a hearing aid. […] Behavioral and psychological problems are more common among children with Down syndrome than among other children. […] Up to 75 percent of children with Down syndrome have sleep apnea, a sleep disorder that causes them to intermittently stop breathing while asleep. […] The prognosis for a child with Down syndrome used to be pretty grim. […] Thanks to advances in the treatment and screening of people with Down syndrome, the average lifespan is approximately 60 years.
  • #61 Down Syndrome Clinical Presentation: History, Physical Examination, Complications
    https://emedicine.medscape.com/article/943216-clinical
    Assessment of endocrine health, especially with regard to thyroid function, is key, as hypothyroidism is common in Down syndrome. Growth patterns should be reviewed because endocrine disorders can impact physical and cognitive development. […] Atlantoaxial instability (AAI) requires assessment, as symptoms like neck pain, gait changes, and loss of motor skills may indicate instability in the cervical spine. Severe cases may require surgical intervention. […] Developmental delays become evident within the first year of life. On average, milestones such as sitting and walking occur at roughly twice the typical age. Similarly, language development follows the usual sequence but progresses more slowly, with the first word typically spoken at around 18 months. […] Moderate-to-severe intellectual disability occurs as a constant feature, with IQs ranging from 20 to 85 (mean, approximately 50). Muscle hypotonia is seen in newborns, with decreased response to normal stimuli; this improves with age. Articulatory problems are present.
  • #62 Patient education: Down syndrome (Beyond the Basics) – UpToDate
    https://www.uptodate.com/contents/down-syndrome-beyond-the-basics
    The immune system of people with Down syndrome may not work as it should. […] Approximately 5 percent of babies with Down syndrome have abnormally formed digestive organs, which can block the gastrointestinal tract and may require surgery. […] Down syndrome can affect the way the body produces or responds to hormones. […] People with Down syndrome often have too much flexibility between the bones at the top of the spine that support the head (called atlantoaxial instability). […] Almost all babies born with Down syndrome are intellectually disabled, but the degree of impairment can vary a lot. […] Babies with Down syndrome are usually smaller than other babies, and they have smaller heads. […] Most children with Down syndrome have some sort of vision problem, such as nearsightedness, farsightedness, or astigmatism.
  • #63 Down Syndrome Regression Disorder – LuMind IDSC Foundation
    https://lumindidsc.org/down-syndrome-regression-disorder
    Down Syndrome Regression Disorder (DSRD), sometimes also referred to as just regression, is a disorder that occurs in some adolescents and young adults with Down syndrome. It is a serious disorder wherein the individual loses skills they had previously learned such as daily living, language, movement, or social skills. […] DSRD symptoms can mimic so many other disorders. This is also why there is now a DSRD symptoms checklist for medical professionals to use to help identify symptom clusters. […] Below are symptom clusters that are seen with Down Syndrome Regression Disorder. There are eight individual symptom clusters. An individual displaying symptoms from four or more symptom clusters may possibly have DS-RD and further investigation is warranted. […] Eating much more or less than usual […] Difficulty producing or understanding speech […] Loss/worsening of previously learned skills like self-feeding, toileting, or dressing […] New or worsened anxiety […] Lack of movement (sometimes with stiff and rigid muscles) […]
  • #64 Regression & Down Syndrome | National Down Syndrome Society (NDSS)
    https://ndss.org/resources/regression-down-syndrome
    Down syndrome regression disorder (DSRD), also referred to as regression, is a rare but serious disorder that occurs in some adolescents and young adults with Down syndrome. Regression is used to describe the loss of skills an individual has previously learned. These skills can be daily living, language, movement, or social skills. The loss is often sudden and occurs over a period of weeks to months. […] There are eight clusters of symptoms linked to regression, and some are broken down into specific examples. Individuals who are experiencing four or more of the eight symptom clusters are considered possible cases of DSRD, meaning further investigation is needed. Individuals who have seven or eight of the eight symptom clusters are considered probable cases, meaning they are likely to receive a diagnosis of DSRD if no other cause can be found.
  • #65 U-Turn: Down Syndrome Regression Disorder – Down Syndrome Resource Foundation
    https://www.dsrf.org/resources/blog/u-turn-down-syndrome-regression-disorder/
    There has long been a recognized phenomenon in which some people with Down syndrome regress in certain areas, seemingly losing skills they had previously mastered. […] Reported incidences of regressive episodes, which happen at an earlier age than that at which early onset dementia typically becomes an issue, are on the rise, particularly since the COVID-19 pandemic. […] Regression is just a loss of previously acquired skills. There are a number of different areas that people can have regression in. It can be in the activities of daily living; peoples ability to take care of themselves and wash and dress and that sort of thing. You can also have regression in language and communication, or in motor skills, memory, or behaviour. […] An important piece when it comes to regression is, when is it happening? In the first ten years of life, regression is often associated with autism spectrum disorder, whereas later on there seems to be this regressive phenomenon in the early teens in females, and right around the onset of puberty in our male patients.
  • #66 Down Syndrome Regression Disorder – LuMind IDSC Foundation
    https://lumindidsc.org/down-syndrome-regression-disorder
    Down Syndrome Regression Disorder (DSRD), sometimes also referred to as just regression, is a disorder that occurs in some adolescents and young adults with Down syndrome. It is a serious disorder wherein the individual loses skills they had previously learned such as daily living, language, movement, or social skills. […] DSRD symptoms can mimic so many other disorders. This is also why there is now a DSRD symptoms checklist for medical professionals to use to help identify symptom clusters. […] Below are symptom clusters that are seen with Down Syndrome Regression Disorder. There are eight individual symptom clusters. An individual displaying symptoms from four or more symptom clusters may possibly have DS-RD and further investigation is warranted. […] Eating much more or less than usual […] Difficulty producing or understanding speech […] Loss/worsening of previously learned skills like self-feeding, toileting, or dressing […] New or worsened anxiety […] Lack of movement (sometimes with stiff and rigid muscles) […]
  • #67 Regression & Down Syndrome | National Down Syndrome Society (NDSS)
    https://ndss.org/resources/regression-down-syndrome
    Individuals who are experiencing four or more of the eight symptom clusters are considered possible cases of DSRD, meaning further investigation is needed. […] Behavioral changes, such as eating much more or less than usual, confusion or disorientation, laughing or crying at inappropriate times, and frequent changes in mood or rapid fluctuations between happiness, sadness, or anger, are symptoms. […] Loss of functional and social skills includes loss/worsening of previously learned skills like self-feeding, toileting, or dressing, decreased social interaction with friends, family, classmates, or coworkers, decreased eye contact, and repetitive hand or body movements with no clear purpose. […] Language difficulties include difficulty producing or understanding speech, increased difficulty with reading, and no longer speaking or speaking only in a whisper.
  • #68 U-Turn: Down Syndrome Regression Disorder – Down Syndrome Resource Foundation
    https://www.dsrf.org/resources/blog/u-turn-down-syndrome-regression-disorder/
    The term autistic regression has been used for a long time, but we know that autism doesn’t suddenly develop in the teen years. Meanwhile, regressions on the other end of the age spectrum are more related to Alzheimer’s disease. […] People with Down syndrome can have a milder degree of regression in many areas, and it’s important for families to be aware of the different medical conditions that can cause this. […] Down syndrome regression disorder (DSRD) is really a diagnosis of exclusion. Our workup is not to diagnose DSRD; our workup is to rule out other explanations for it. […] What makes DSRD unique is that symptom onset tends to be pretty quick. We go very quickly from high function to, oh boy, what’s going on? Why can’t you toilet independently? Why can’t you do all these other tasks that you’ve been able to do in the past? And it happens over the course of a few weeks.
  • #69 U-Turn: Down Syndrome Regression Disorder – Down Syndrome Resource Foundation
    https://www.dsrf.org/resources/blog/u-turn-down-syndrome-regression-disorder/
    The term autistic regression has been used for a long time, but we know that autism doesn’t suddenly develop in the teen years. Meanwhile, regressions on the other end of the age spectrum are more related to Alzheimer’s disease. […] People with Down syndrome can have a milder degree of regression in many areas, and it’s important for families to be aware of the different medical conditions that can cause this. […] Down syndrome regression disorder (DSRD) is really a diagnosis of exclusion. Our workup is not to diagnose DSRD; our workup is to rule out other explanations for it. […] What makes DSRD unique is that symptom onset tends to be pretty quick. We go very quickly from high function to, oh boy, what’s going on? Why can’t you toilet independently? Why can’t you do all these other tasks that you’ve been able to do in the past? And it happens over the course of a few weeks.
  • #70 Down Syndrome Regression Disorder – LuMind IDSC Foundation
    https://lumindidsc.org/down-syndrome-regression-disorder
    Sara was a seemingly normal 17-year-old girl. […] However, in August of 2023, her mom Betsy noticed that she developed skin irritation, and her mobility had become altered; it was hard for her to get around. […] Things that came naturally to her now seemed confusing, like opening the car door or brushing her teeth. […] After months of Saras symptoms persisting, she began treatment with Intravenous immunoglobulin therapy or IVIG. […] The treatment did not have the hoped-for effect. […] Betsy thinks she has seen some improvement with the addition of the medications, but she cant be sure. […] In 2018, Morgan was an 18-year-old with a whole lot of love to give. […] At the end of that year, Morgans mom Dawn noticed that she started to act off. […] Morgans symptoms began with an eerie laugh that had a cackling quality, and she began rocking back and forth in her seat during car rides. […] About six months after her symptoms began, she had what seemed like a seizure. […] It wasnt until her mom stumbled into an online forum about DSRD that a lightbulb went off. […] Slowly, Morgan has begun to regain function. She is now able to engage socially, and she has rekindled friendships that had lagged while she was in full-blown regression.
  • #71 U-Turn: Down Syndrome Regression Disorder – Down Syndrome Resource Foundation
    https://www.dsrf.org/resources/blog/u-turn-down-syndrome-regression-disorder/
    There are eight core features that we look at: […] That’s a lot of symptoms, but if you’re seeing more than two or three of them, that’s an indication that you should get your child in for evaluation. […] The sum total of all those symptoms is that your child is gone. […] The pandemic was very difficult for many people, including those with Down syndrome. That type of stress on them might be the thing that kickstarts regression. […] Historically, I think a lot of individuals with regression didn’t get the name. It was just labeled as early onset Alzheimer’s, or it was just seen as part of Down syndrome. […] If all other causes are ruled out and the final diagnosis is DSRD, there are a variety of different therapeutics. […] Its common for an individual to be on multiple different therapies at the same time to address various symptoms. […] We get many patients close. I would say our median is probably about 60-75% return to baseline.
  • #72 U-Turn: Down Syndrome Regression Disorder – Down Syndrome Resource Foundation
    https://www.dsrf.org/resources/blog/u-turn-down-syndrome-regression-disorder/
    There are eight core features that we look at: […] That’s a lot of symptoms, but if you’re seeing more than two or three of them, that’s an indication that you should get your child in for evaluation. […] The sum total of all those symptoms is that your child is gone. […] The pandemic was very difficult for many people, including those with Down syndrome. That type of stress on them might be the thing that kickstarts regression. […] Historically, I think a lot of individuals with regression didn’t get the name. It was just labeled as early onset Alzheimer’s, or it was just seen as part of Down syndrome. […] If all other causes are ruled out and the final diagnosis is DSRD, there are a variety of different therapeutics. […] Its common for an individual to be on multiple different therapies at the same time to address various symptoms. […] We get many patients close. I would say our median is probably about 60-75% return to baseline.
  • #73 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Children born with Down syndrome lead happy and healthy lives with supportive care. Treatment and therapies can help them reach developmental milestones, gain an education with their peers, build relationships and have successful careers. […] No. Down syndrome is a lifelong condition, and there isn’t a cure. Symptoms of the condition are manageable, and treatment is available for any associated conditions that may arise. […] The life expectancy for a person diagnosed with Down syndrome is 60 or older. They may need support and care throughout their entire life.
  • #74 About Down Syndrome | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    https://www.nichd.nih.gov/health/topics/down/conditioninfo
    Down syndrome describes a set of cognitive and physical symptoms that result from an extra copy or part of a copy of chromosome 21. […] The extra chromosome disrupts the normal course of development and results in the physical features and intellectual and developmental disabilities associated with the syndrome. […] The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate. Generally, children with Down syndrome reach key developmental milestones later than other children. […] People with the syndrome are also more likely to be born with heart abnormalities, and they are at increased risk for developing hearing and vision problems, Alzheimers disease, and other conditions. […] However, with appropriate support and treatment, many people with Down syndrome lead happy, productive lives. […] In recent decades, life expectancy for people with Down syndrome has increased dramatically, from 25 years in 1983 to 60 years today.
  • #75 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Health concerns that result from having Down syndrome can be mild, moderate or severe. Some children with Down syndrome are healthy, while others may have serious health problems. Some health concerns may become more of a problem as the person gets older. […] Over the years, there have been advances in healthcare for children and adults with Down syndrome. Because of these advances, children born today with Down syndrome are likely to live a longer life than in the past. People with Down syndrome can expect to live more than 60 years, depending on how severe their health problems are.
  • #76 About Down Syndrome | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    https://www.nichd.nih.gov/health/topics/down/conditioninfo
    Down syndrome describes a set of cognitive and physical symptoms that result from an extra copy or part of a copy of chromosome 21. […] The extra chromosome disrupts the normal course of development and results in the physical features and intellectual and developmental disabilities associated with the syndrome. […] The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate. Generally, children with Down syndrome reach key developmental milestones later than other children. […] People with the syndrome are also more likely to be born with heart abnormalities, and they are at increased risk for developing hearing and vision problems, Alzheimers disease, and other conditions. […] However, with appropriate support and treatment, many people with Down syndrome lead happy, productive lives. […] In recent decades, life expectancy for people with Down syndrome has increased dramatically, from 25 years in 1983 to 60 years today.
  • #77 Living with Down Syndrome | Birth Defects | CDC
    https://www.cdc.gov/birth-defects/living-with-down-syndrome/index.html
    Down syndrome is the most common chromosomal condition diagnosed in the United States. […] Children with Down syndrome are living longer, many into their adult years. […] Ongoing, appropriate medical care can help children and adults with Down syndrome live as healthy lives as possible. […] The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. In 1960, on average, persons with Down syndrome lived to be about 10 years old. In 2007, on average, persons with Down syndrome lived to be about 47 years old. […] Many factors can affect how long a person with Down syndrome lives. […] Between 50 and 65% of all babies born with Down syndrome are also born with a congenital heart defect. […] Compared with children without Down syndrome, children with Down syndrome are at higher risk for certain other medical conditions. Some of the most common conditions include: Hearing loss (up to 75% may be affected), Obstructive sleep apnea, where a person’s breathing temporarily stops while asleep (between 50 and 75%), Ear infections (between 50 and 70% may be affected), Eye diseases, like cataracts (up to 60%), Eye issues requiring glasses (50%), Heart defects present at birth (between 50 and 65%), Alzheimer’s disease.
  • #78 Down Syndrome: Symptoms & Causes
    https://my.clevelandclinic.org/health/diseases/17818-down-syndrome
    Children born with Down syndrome lead happy and healthy lives with supportive care. Treatment and therapies can help them reach developmental milestones, gain an education with their peers, build relationships and have successful careers. […] No. Down syndrome is a lifelong condition, and there isn’t a cure. Symptoms of the condition are manageable, and treatment is available for any associated conditions that may arise. […] The life expectancy for a person diagnosed with Down syndrome is 60 or older. They may need support and care throughout their entire life.
  • #79 Down Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/down-syndrome
    Many children with Down syndrome can participate in regular classrooms, though they may need extra help or modifications. Thanks to widespread special education and community programs, more and more people with Down syndrome graduate from high school, attend college, and work in their communities. […] Behavioral problems such as stubbornness, impulsivity, and temper tantrums may be more common in children with Down syndrome. Many children talk out loud to themselves as a way of understanding and processing information. […] The average life span for people with Down syndrome has increased dramatically since the early 1900s. On average, people with Down syndrome live to about 55 to 60 years of age and some live into the 70s or 80s.
  • #80 Down Syndrome: Causes, Types, and Symptoms
    https://www.healthline.com/health/down-syndrome
    Medical complications often accompany Down syndrome. These may include: congenital heart defects, hearing loss, poor vision, cataracts (clouded eyes), hip problems, such as dislocations, leukemia, chronic constipation, sleep apnea (interrupted breathing during sleep), dementia (thought and memory problems), hypothyroidism (low thyroid function), obesity, late tooth growth, causing problems with chewing, Alzheimers disease later in life. […] People with Down syndrome are also more prone to infection. They may struggle with respiratory infections, urinary tract infections, and skin infections. […] Children with Down syndrome often meet age-related milestones. However, they may learn more slowly than other children. […] The lifespan for people with Down syndrome has improved dramatically in recent decades. In 1960, a baby born with Down syndrome often didnt see their 10th birthday. Today, life expectancy for people with Down syndrome has reached an average of 50 to 60 years. […] People with Down syndrome are living longer and richer lives now more than ever. Though they can often face a unique set of challenges, they can also overcome those obstacles and thrive.
  • #81 Down syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/down-syndrome/
    Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. […] People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer’s disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer’s disease. Although Alzheimer’s disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.
  • #82 Down Syndrome and Alzheimer’s | Symptoms & Treatments | alz.org
    https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/down-syndrome
    As they age, those affected by Down syndrome have a greatly increased risk of developing a type of dementia that’s either the same as or very similar to Alzheimer’s disease. […] Autopsy studies show that by age 40, the brains of almost all individuals with Down syndrome have significant levels of beta-amyloid plaques and tau tangles, abnormal protein deposits considered Alzheimer’s hallmarks. Despite the presence of these brain changes, not everyone with Down syndrome develops Alzheimer’s symptoms. […] In people with Down syndrome, changes in overall function, personality and behavior may be more common early signs of Alzheimer’s than memory loss and forgetfulness. Early symptoms may include: Reduced interest in being sociable, conversing or expressing thoughts. Decreased enthusiasm for usual activities. Decline in ability to pay attention. Sadness, fearfulness or anxiety. Irritability, uncooperativeness or aggression. Restlessness or sleep disturbances. Seizures that begin in adulthood. Changes in coordination and walking. Increased noisiness or excitability. […] According to the National Down Syndrome Society, about 30% of people with Down syndrome who are in their 50s have Alzheimer’s dementia. About 50% of people with Down syndrome in their 60s have Alzheimer’s dementia.
  • #83 Down Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/943216-overview
    The overall outlook for individuals with Down syndrome has dramatically improved. Many adult patients are healthier and better integrated into society, and life expectancy has risen from 25 years in 1983 to approximately 60 years today. […] Individuals with Down syndrome have a greatly increased morbidity, primarily because of infections involving impaired immune response. […] The aging process seems to be accelerated in patients with Down syndrome. The Alzheimer disease-associated neuropathologic characteristics of amyloid- plaques and neurofibrillary tangles made of hyperphosphorylated tau are found in almost all persons with Down syndrome by age 40 years. Alzheimer disease itself develops in about 50% of individuals with Down syndrome, often arising at a relative early age. By the seventh decade of life, persons with Down syndrome have a more than 90% chance of developing Alzheimer disease.
  • #84 Adult Down Syndrome | The University of Kansas Health System
    https://www.kansashealthsystem.com/care/conditions/adult-down-syndrome
    About 1 in 772 babies in the U.S. is born with Down syndrome. This means about 5,100 babies with Down syndrome are born per year, according to the National Down Syndrome Society. […] Many adults with Down syndrome live an active healthy life, with life expectancy now around 58-61 years. Specialized care makes this possible. Because of their increased health risks, ongoing healthcare is important so they can stay active, work, socialize and live comfortably. […] Each person’s experience with Down syndrome is unique. However, some symptoms are more common than others. Many adults with Down syndrome have intellectual disabilities, mental health issues, autoimmune issues and behavioral issues. […] People with Down syndrome are more at risk for health problems such as obesity, autoimmune disorders like thyroid problems and celiac disorder, and necessary continuous heart monitoring. […] Adults with Down syndrome are diagnosed with the condition at birth. Because those with Down syndrome are at higher risk for health issues, it’s necessary for them to keep up with routine screenings, blood tests, immunizations and other primary care activities.
  • #85 Down syndrome and health | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/healthyliving/down-syndrome-and-health
    People with Down syndrome will enjoy a long, happy and healthy life with an average life expectancy of 60 years of age. […] There are some common health issues and some more serious medical conditions that are more likely to occur in people with Down syndrome than in other people. […] It is important to note that predisposition to a health issue does not mean that every person with Down syndrome will have that condition, however it does mean that early intervention through regular GP check ups and screening is very important for people with Down syndrome to lead healthy lives. […] Some of the common medical issues as outlined by the Guidelines for Adults with Down Syndrome include congenital cardiac and gastrointestinal anomalies, autoimmune conditions, diverse leukemias, respiratory infections, sleep disorders, hearing and vision loss and early development of Alzheimers-type dementia.
  • #86 FAQ and Facts about Down Syndrome – Global Down Syndrome Foundation
    https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/
    3. Down syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U.S. and in the world. […] 1. People with Down syndrome are significantly predisposed to certain medical conditions including congenital heart defects, sleep apnea, and Alzheimers disease. There is also evidence of an increased risk of celiac disease, autism, childhood leukemia and seizures. […] 1. Today the average lifespan of a person with Down syndrome is approximately 60 years. […] 5. Early intervention for babies with Down syndrome is very important. The appropriate physical and speech therapies for the first five years can make a major difference for that child’s physical and intellectual development.
  • #87 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Down syndrome varies in severity among individuals. The condition causes lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal cause of intellectual disabilities in children. It also commonly causes other medical conditions, including heart and digestive system problems. […] Each person with Down syndrome is an individual. Problems with intellect and development are usually mild to moderate. Some people are healthy while others have serious health issues such as heart problems that are present at birth. […] Children with Down syndrome take longer to reach developmental milestones, such as sitting, talking and walking. Occupational therapy, physical therapy, and speech and language therapy can help improve physical functioning and speech. […] Most children with Down syndrome have mild to moderate cognitive impairment. This means that they have problems with memory, learning new things, focusing and thinking, or making decisions that affect their everyday life. Language and speech are delayed.
  • #88 What is Down Syndrome? | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/down-syndrome/
    The pregnant parent wont feel or notice symptoms that could indicate their baby has Down syndrome. Imaging experts may look for certain signs of Down syndrome, such as extra fluid on the back of the neck, during an ultrasound. […] Treatment for Down syndrome looks different for every child, but here are some things you might expect: Children with Down syndrome need labs and other screenings to look for changes in thyroid and iron levels, and to detect celiac disease. Developmental therapies and specialized education plans may help children with Down syndrome learn and grow. Some children with Down syndrome need medications for issues like thyroid disease, sleep apnea, seizures and constipation. Some medical problems, like congenital heart defects, require surgery.
  • #89 Down syndrome – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
    Down syndrome varies in severity among individuals. The condition causes lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal cause of intellectual disabilities in children. It also commonly causes other medical conditions, including heart and digestive system problems. […] Each person with Down syndrome is an individual. Problems with intellect and development are usually mild to moderate. Some people are healthy while others have serious health issues such as heart problems that are present at birth. […] Children with Down syndrome take longer to reach developmental milestones, such as sitting, talking and walking. Occupational therapy, physical therapy, and speech and language therapy can help improve physical functioning and speech. […] Most children with Down syndrome have mild to moderate cognitive impairment. This means that they have problems with memory, learning new things, focusing and thinking, or making decisions that affect their everyday life. Language and speech are delayed.
  • #90 What are the symptoms of Down syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
    Cognitive impairment, or problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Only rarely is Down syndrome associated with severe cognitive impairment. […] Other common cognitive and behavioral problems may include: Short attention span, Poor judgment, Impulsive behavior, Slow learning, Delayed language and speech development. […] Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.
  • #91 Down Syndrome (Trisomy 21) in Children
    https://phoenixchildrens.staywellsolutionsonline.com/Search/90,P02356
    Complications of Down syndrome vary depending on the body organ affected and the severity of the problem. Problems include certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing. How severe the complications are varies from child to child. Treatment will also vary depending on the body organ affected and the severity of the problem. Your child’s healthcare provider will discuss treatment choices with you. […] There is no cure for Down syndrome, but treatment is available to help your child. Your child may need physical, occupational, and speech therapy to help with their development. Many children are helped with early intervention and special education.
  • #92 Down syndrome and health | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/healthyliving/down-syndrome-and-health
    Many people with Down syndrome have lower immunity than the general population. […] It should also be noted that people with Down syndrome do not always localise pain very well and may also not be able to clearly express the level of pain they may be experiencing. […] Health screens required by people with Down syndrome will vary according to age. […] People with Down syndrome grow more slowly than others. […] Low muscle tone can lead to problems with the structure of the foot, poor gait and mobility issues. […] Muscle tone usually improves as the child grows older.
  • #93 Down Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/down-syndrome.html
    Down syndrome affects kids’ ability to learn in different ways, and most have mild to moderate intellectual disability. […] Almost half of all children born with Down syndrome will have a congenital heart defect. […] About half of all kids also have problems with hearing and vision. […] Medical problems that happen more often with Down syndrome include thyroid problems (usually hypothyroidism), stomach and intestinal problems, including celiac disease, reflux, and constipation, seizures, breathing problems, including sleep apnea and asthma, obesity, infections, including ear infections and pneumonia, childhood leukemia. […] People with Down syndrome sometimes have an unstable upper spine (neck) and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, changes to their walking, or unexpected loss of bladder or bowel control.
  • #94 Down’s Syndrome (Trisomy 21)
    https://patient.info/doctor/downs-syndrome-trisomy-21
    Children with Down’s syndrome have multiple malformations, medical conditions and cognitive impairment because of the presence of extra genetic material from chromosome 21. The Down’s syndrome phenotype is variable and the degree of cognitive impairment may be mild, moderate or severe. […] At birth there is a wide range of associated physical features with Down’s syndrome. Not all babies have typical facies. Frequently the first feature noticed is hypotonia. […] All newborns with Down’s syndrome should undergo screening for cardiac, feeding, vision, hearing, thyroid and haematological abnormalities as soon as possible. […] The survival of people with Down’s syndrome has dramatically increased in the past few decades, largely as a result of improved surgical repair of congenital heart defects. Until the 1970s, the median age at death for children with Down’s syndrome was less than 10 years leading up to the 1970s but 80% of affected individuals now survive into adolescence, with a median age at death in their mid-50s.
  • #95 Caring for a Child With Down Syndrome | Mass General Brigham
    https://www.massgeneralbrigham.org/en/about/newsroom/articles/caring-for-a-child-with-down-syndrome
    Down syndrome occurs when cells have an extra copy of the 21st chromosome. So, instead of 46 chromosomes, people with Down syndrome usually have 47. […] Newborns with Down syndrome typically present physical characteristics of the condition at birth. They include: Low set ears, Short fingers, Wide gaps between first and second toes, Indented nasal bridge, Upward slanting eyes. […] People with Down syndrome typically experience several other health conditions. The most common include: Heart conditions and blood disease, Low muscle tone, Intellectual disability and mental health, Poor vision and hearing, Digestive and dental problems, Infections, Sleep apnea, Thyroid disease, Infantile spasms. […] The average lifespan of someone with Down syndrome is close to 60. Thanks to advances in medicine and technology, Dr. Skotko thinks the best has yet to come for individuals with the condition. […] Medicine has advanced to address and prevent many of the medical conditions associated with Down syndrome. Unlike decades ago, people with Down syndrome now have access to a variety of living arrangements for when they age into adulthood.
  • #96 Down syndrome: Causes, characteristics, is it genetic, and more
    https://www.medicalnewstoday.com/articles/145554
    Children with Down syndrome are also more likely to develop some infections, such as respiratory infections, middle ear infections, tonsillitis, and pneumonia. […] A person with Down syndrome can do many things that other people do. Children may take longer to acquire skills such as walking and talking, but they can develop at their own pace and attend school with early stimulation and treatment. […] Depending on how the condition affects a person, they may work and live semi-independently with Down syndrome. […] The life expectancy of a person with Down syndrome has increased significantly with modern advancements in medicine and treatment. In 1960, a person with Down syndrome lived an average of 10 years. By 2007, a person with Down syndrome lived an average of 47 years. […] A person born with Down syndrome today has the best chance at leading a long, engaging life due to modern advancements in healthcare, early treatments, and successfully managing congenital issues such as heart conditions.