•Neurodevelopmental syndrome
named for John Langdon Haydon
Down who first described the
physical and behavioral
characteristics in 1862
Down Syndrome
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CONDIZIONE PATOLOGICA CONGENITA CARATTERIZZATA DA UN COMPLESSO CARATTERISTICO DI ANOMALIE SOMATICHE. DOWN NE DIEDE LA PRIMA DESCRIZIONE NEL 1866 DESCRISSE UNA CONDIZIONE RELATIVAMENTE FREQUENTE, UN CASO OGNI 650 NASCITE LA MALATTIA È DETERMINATA DA UN’ANOMALIA DEL CORREDO CROMOSOMICO NELLA MAGGIOR PARTE DEI CASI I SOGGETTI DOWN HANNO 47 CROMOSOMI ANZICHÉ 46 IN QUANTO NE POSSEGGONO UNO IN PIU’ DA QUI IL NOME TRISOMIA 21. QUESTA ANOMALIA SI DETERMINA AL MOMENTO DELLA MATURAZIONE DELLA CELLULA UOVA NEL L’OVAIO MATERNO IN SEGUITO ALLA MANCATA DISGIUNZIONE DI DUE CROMOSOMI DELLA COPPIA 21. QUINDI SI VIENE AD AVERE UNO ZIGOTE IL CUI CORREDO CROMOSOMICO È 47 XX NELLA FEMMINA E 47 XY NEL MASCHIO. RARAMENTE CROMOSOMA SOVRA NUMERARIO NON È LIBERO MA ATTACCATO AD UN ALTRO (TRASLOCAZIONE) OPPURE NON TUTTE LE CELLULE MA SOLO UNA PARTE HANNO 47 CROMOSOMI (MOSAICISMO)
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2024/2025
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Neurodevelopmental syndrome named for John Langdon Haydon Down who first described the physical and behavioral characteristics in 1862
Down Syndrome
1958 Jerome Lejeune and his team identified trisomy 21 ( chromosomes-one extra chromosome 21 in cells) as cause of Down Syndrome
- (^) Only 2 years after it was discovered that the typical number of humanchromosomes was 46
Down Syndrome
Meiosis Watch Video Here https://www.youtube.com/watch?v=nMEyeKQClqI
Down Syndrome
Typical cell division- 46 chromosomes Non-dysjunction cell division- chromosomes
Down Syndrome
- (^) 90-95% full trisomy from nondysjunction of maternal origin during meiosis
- (^) 2-4% translocation
- (^) (usually 13-15 or 21-22)
- (^) 2-4% mosiacism
- (^) nondysjunction occurs after fertilization resulting in two different cell lines
Eyes: cataracts and glaucoma
- (^) 5% Cataracts
- (^) 1% Glaucoma
- (^) Near-sightedness
Ears: hearing loss
- (^) 30-75% by preschool
Health in Down Syndrome
Thyroid: low thyroid
- (^) 30% by 25 years
- (^) Gut: celiac disease (wheat allergy)
- (^) 4-7%
- (^) Immune dysfunction:
- (^) autoimmune/leukemia
Health in Down Syndrome
Development in Down
Syndrome
- (^) Social and self help skills usually on track early and often remain strengths
- (^) Motor skills (sitting, walking, running) delayed due to low muscle tone, joints
- (^) Language skills often start on time, but usually slow in second year and affect talking more than understanding
Early Communication Skills
in DS
18.60% 51.70% 23.60% 6.10% Gestures (range: 7% - 46%) Vocalizations (range: 11% - 76%) Single Words (range: 6% - 53%) Multiple Words (range: 0%- 34%)
- (^) Social supports, cognitive skills, emotional and physical health predict adaptive function and employment
Development in Down
Syndrome
Kumin et al (2015) J of Applied Research in Intellectual Disability
- (^) 57% employed (3% full time)
- (^) 20% volunteered
- (^) 3% self-employed
- (^) 30% unemployed
Down Syndrome
Research at MIND:
Vocabulary
Kover et al. J Speech, Lang, Hear Res (2012)
Research at MIND:Language Syntax Kover et al. J Speech, Lang, Hear Res (2012)