Sindroma Down dr Ayling Sanjaya M Kes Sp

Sindroma Down dr. Ayling Sanjaya, M. Kes, Sp. A Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya

Pengertian • Disebut juga Trisomi 21. • Suatu kondisi di mana adanya tambahan genetik menyebabkan gangguan dalam pertumbuhan dan perkembangan seorang anak. • Sindroma Down adalah fenotip akibat terdapatnya 3 buah kromosom no. 21, ditandai lebih dari 30 sifat-sifat fenotip.

Down Syndrome v Dr. John Langdon Down described the syndrome in 1866. v Diagnosis was made clinically until 1959 v The chromosome abnormality was discovered in 1959 (by Lejeune) v Down syndrome is one of the first symptom complexes associated with mental retardation to be identified as a syndrome.

Epidemiologi DS • 1 in 700 live births • >60% spontaneously aborted • 1 child in every 800 -1, 100 births has DS • 250, 000 people in the U. S. have DS • Tiap tahun lahir di Jawa Timur 462 bayi dengan DS • Sekurang-kurangnya 20 % lahir mati; • Meningkat dengan bertambahnya usia ibu hamil

Genetics • Trisomy 21 (47, +21), - 94 %, The frequency of trisomy increases with increasing maternal age. • Robertsonian translocation involving chromosome 21 - Approx. 3 -4 %, not related to maternal age. • Trisomy 21 mosaicism – 2 to 3 % cases The trisomy 21 type of Down syndrome is the result of an error in meiosis, and has a recurrence risk of about 1 in 100.

Trisomy 21 Karyotype

• 95% kasus trisomi murni; umumnya karena nondisjunction pada meosis I (80%); kadang-2 meosis II • Pada 85% kasus ibu penyumbang kopi ekstra kromosom; saham ayah 15% • Sekurang-kurangnya 1% penderita mosaik; terdapat garis- garis sel normal dan garis-garis sel trisomi 21. Karena non-disjunction mitotik pada zygot trisomi 21 (80%) atau zygot normal (20%); gejala-2 pada individu-2 ini cenderung lebih ringan • 4% kasus penderita mendapat kopi kromosom 21 ekstra dari orang tua “carrier” translokasi seimbang atau merupakan translokasi de Novo

Trisomy 21 amniocyte

CLINICAL FEATURES DS v Extra and loose neck skin v Single creases on the palms v Clinodactyly (curved fifth finger) v Broad space between the first and second toes v A deep plantar crease v The tongue often protrudes, more because of low muscle tone than true enlargement. v Central hair whorl (cowlick) v Flat occiput (back of the head) v Upslanting eyes v Epicanthal folds (folds around the corner of the eye) v White spots in the iris of the eye (Brushfield spots) v Upturned nose

Ophthalmologic Features Keratoconus Brushfield Spots

Related Conditions v. Congenital Heart Disease v. Seizures v. Eye Anomalies v. Hearing Loss v. Genito-Urinary Tract Anomalies v. Respiratory Disease v. Behaviour v. Obesity v. Sleep Apnea v. Developmental Delays v. Blood Disease v. Endocrine Disease v. Blood Disorders v. Alzheimer’s Disease v. Mental Retardation

Diagnosis • Prenatal screening • If no screening – It is recognized from the characteristic phenotypic features. • Confirmed by Karyotype.

Can Down Syndrome Be Diagnosed Prenatally? • Yes, it can be diagnosed or more likely ruled out. • Alpha fetoprotein (AFP) blood test, a screening test, can be done around the 16 th week of pregnancy. • Amniocentesis or chorionic villus sampling are the most reliable tests used, but should be used cautiously due to the risks associated with them.

Management • Early intervention services, which begin shortly after birth, help children with Down syndrome develop to their full potential. • Quality educational programs, along with a stimulating home environment and good medical care enable people with Down syndrome to become contributing members of their families and communities.

Counseling • May begin when a prenatal diagnosis is made. • Discuss the wide range of variability in manifestation and prognosis. • Medical and educational treatments and interventions should be discussed. • Initial referrals for early intervention, informative publications, parent groups, and advocacy groups.

Mortality Median age of death has increased from 25 yrs in 1983 to 49 yrs in 1997, an average of 1. 7 yrs increase per year. Most likely cause of death is CHD, Dementia, Hypothyroidism and Leukemia. Improved survival is because of increased placements of infants in homes and changes in treatment for common causes of death. Survival is better for males and blacks.

How Will Children With Down Syndrome Develop Compared To Other Children? • Children with Down syndrome can do most things that any young child can do, such as walking, talking, dressing, and being toilet trained, but usually develop later than other children. • Down syndrome usually results in some degree of mental retardation, the degree of which varies widely. However, many will learn to read and write. • Many people with Down syndrome hold supported employment, and frequently live semi-independently.

Yayasan ISDI (Ikatan Sindroma Down Indonesia) NDSS (National Down Syndrome Society) Di USA Undang 2 Federal IDEA (Individual with Disabilities Education) mewajibkan negara 2 bagian u/ menyediakan lembaga 2 pelayanan intervensi dini bagi anak 2 yg memenuhi syarat 2 undang 2 tsb (meningkatkan pertumbuhan bayi dan balita, serta membantu keluarga memahami kebutuhan 2 dari anak 2 nya penderita DS.

TERIMA KASIH