Professional Documents
Culture Documents
1. Weijerman, ME; de Winter, JP (Dec 2010). "Clinical practice. The care of children with Down syndrome". European Journal of Pediatrics. 169 (12): 1445–52. doi:
10.1007/s00431-010-1253-0. PMC 2962780. PMID 20632187.
2. Patterson, D (Jul 2009). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. PMID 19526251. S2CID
10403507.
Introduction
Classification
● Trisomy 21: ~ 95% → each cell in the body has 3 separate copies of chromosome
21 instead of the usual 2 copies.
Pavarino Bertelli Érika Cristina, Biselli Joice Matos, Bonfim Daiana, Goloni-Bertollo Eny Maria. Clinical profile of
children with down syndrome treated in a genetics outpatient service in the southeast of Brazil. Rev. Assoc. Med.
Bras. [Internet]. 2009 [cited 2020 Dec 27] ; 55( 5 ): 547-552. Available from:
https://doi.org/10.1590/S0104-42302009000500017.
Introduction
Clinical picture
● Congenital Cardiac Defects (CHD)
○ The leading cause of morbidity and mortality, especially in the 1st 2 yrs of life.
○ The incidence: ~ 50 %
○ Types:
■ AVSD: 40 %
■ VSD: 32 %
■ Secundum Atrial defect: 10 %
■ ToF: 6 %
■ PDA: 4 %
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Introduction
Clinical picture
● Gastrointestinal (GI) abnormality
○ Structural defects can occur anywhere from the mouth to anus
→ Duodenal and small bowel atresia or stenosis
→ Annular pancreas,
→ Imperforate anus
→ Hirschsprung disease: 2% of Down Sd patients & 12% of hirschsprung have Down Sd
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Introduction
Clinical picture
● Hematological abnormalities in a newborn with Down sd ( HANDS )
○ Neutrophilia: 80 % of Down sd babies
○ Thrombocytopenia: 60%
○ Polycythemia: 34%
○ Transient myeloproliferative disorder
→ About 10% of patients with Down sd.
→ If in the fetus, it can cause spontaneous abortion.
● 10 times more at risk of developing leukemia
→ 2% of all pediatric acute lymphoblastic leukemia and 10% of all pediatric acute
myeloid leukemia
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Introduction
Clinical picture
● Neurologic disorders
○ Reduced brain volume especially hippocampus and cerebellum
■ Hypotonia is the hallmark of babies with Down syndrome and present in
almost all of them → responsible for delayed motor development
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Introduction
Clinical picture
● Endocrine disorders
○ Hypothyroidism can be congenital or acquired.
■ Hyperthyroidism much less frequent as compared to hypothyroidism, although
the incidence rate still exceeds that of the general pediatric population.
○ Insulin-like growth factor responsible for the delay in skeletal maturation and short
stature.
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Introduction
Clinical picture
● Musculoskeletal Disorders
○ Reduced muscle & retarded gross motor skills → hypotonia & ligamentous laxity
○ Vit D deficiency → inadequate exposure to sunlight, malabsorption secondary to celiac disease, increased
breakdown because of anticonvulsant therapy…
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Introduction
Magnitude:
→ Prevalence
→ Incidence
● Between 1 in 1,000 to
1 in 1,100 live births
worldwide
→ Mortality
● 25-30% die during
the first year of life.
● The median age at
death: mid-50s.
● In 2010: 17000
deaths
Descriptive
epidemiology
● Place
→ Globally
➢ Diagnosis
→ Ultrasound between 14 and 24 weeks of gestation (increased nuchal fold thickness, small or no nasal bone and large
ventricles)
→ Amniocentesis and chorionic villus sampling ( a/w small risk of miscarriages: 0.5% to 1%)
Cuckle HS. Primary prevention of Down's syndrome. Int J Med Sci. 2005;2(3):93-9. doi: 10.7150/ijms.2.93. Epub 2005 Jul 1.
PMID: 16007260; PMCID: PMC1168873.
Management
● Prevention (2ry level):
○ Postnatal
■ The American Academy of Pediatrics recommends screening individuals with Down
Syndrome for particular diseases
● Eye exam every year during infancy
● Hearing tests every 6 - 12 months, depending on age
● Dental exams every 6 months
● X-rays of the upper or cervical spine between ages 3 - 5 years
● Pap smears and pelvic exams beginning during puberty or by age 21
● Thyroid testing every 12 months
https://www.wikidoc.org/index.php/Down_syndrome_secondary_prevention
Management
● Prevention (2ry level):
○ Birth
■ Evaluation of the red reflex can help identify congenital cataracts.
■ Movement of the eyes observed to identify strabismus.
■ Constipation should raise concerns for Hirschsprung's disease
● Heart U/S should be done immediately in order to identify congenital heart disease
● A complete blood count to identify pre-existing leukemia
● A hearing test using brainstem auditory evoked responses (BAERS) testing should be performed
● The thyroid function tests.
Management
● Prevention (2ry level):
○ Childhood and adulthood
■ Special growth charts are available so that DS children can be compared with other children with DS.
■ Thyroid function testing should be performed at 6 months and 12 months of age as well as yearly
thereafter.
■ Evaluation of the ears for infection as well as objective hearing tests should be performed at every
visit.
■ Formal evaluation for refractive errors requiring glasses should be performed at least every 2 years
with subjective vision assessments with each visit.
■ After the age of 3, an x-ray of the neck should be obtained to screen for atlanto-axial instability. As the
child ages, yearly symptom screening for obstructive sleep apnea should be performed.
Management
● Prevention (3ry level):
○ Cardiac referral regardless of the clinical signs of congenital heart disease which if
present should be corrected within the first 6 months of life to ensure optimum
growth and development of the child.
● Patterson, D (Jul 2009). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–
214. doi:10.1007/s00439-009-0696-8. PMID 19526251. S2CID 10403507.
● https://www.ncbi.nlm.nih.gov/books/NBK526016/
● Cuckle HS. Primary prevention of Down's syndrome. Int J Med Sci. 2005;2(3):93-9. doi: 10.7150/ijms.2.93.
Epub 2005 Jul 1. PMID: 16007260; PMCID: PMC1168873.
● https://www.wikidoc.org/index.php/Down_syndrome_secondary_prevention