Down syndrome

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Slide 1:

DOWN SYNDROME

INTRODUCTION:

INTRODUCTION Trisomy 21 (47, +21) Most common chromosomal disorder(Y? small chromosome) Incidence increase with maternal age esp after 35 years,not depent on paternal age(Y?Fresh sperm! Fetal ovum!) Extra chromosome either maternal/Paternal,but usually maternal(95%)

INTRODUCTION:

INTRODUCTION Most common genetic cause for severe learning difficulties. The incidence of Down syndrome is estimated at 1 per 733 births is associated with some impairment of cognitive ability and physical growth

Genetics:

Genetics Extra chromosome results from Non disjunction- 94% (Increase with maternal age) Robertsonian translocation -5% (not related to maternal age.) mosaicism – 1%

Clinical Features:

Clinical Features Head and neck Flat nasal bridge Open mouth Protruding tongue Flat occiput Brachycephaly Up-slanting palpebral fissures Epicanthal folds Brushfield spots Small low set ears Short neck Excessive skin at the nape of neck Mental retardation; Extremities Short broad hands Short fifth finger Incurved fifth finger Transverse palmer crease Space between first and second toe Hyper flexibility of joints Hypotonia

Neonatal features:

Neonatal features Flat facial profile Poor Moro reflex Excessive skin at the nape of neck Slanted palpebral fissures Hypotonia Hyper flexibility of joints Dysplasia of pelvis Anomalous ears Dysplasia of midphalanx of fifth finger Transverse palmer crease

Heart Disease:

Heart Disease 50 % of Down Syndrome pts have heart disease Atrioventricular septal defect VSD Secundum ASD PDA Tetrology of Fallot Mitral valve prolapse AR, MR

Mental Retardation:

Mental Retardation Almost all DS babies have MR. Mildly to moderately retarded . Starts in the first year of life. Average age of sitting(11 mon), and walking (26 mon) is twice the typical age. First words at 18 months. IQ declines through the first 10 years of age, reaching a plateau in adolescence that continues into adulthood.

GI abnormalities:

GI abnormalities 5% of cases Duodenal atresia or stenosis, sometimes assoc with annular pancreas in 2.5 % of cases Imperforate anus Esophageal atresia with TE fistula is less common Hirschsprung’s disease Strong assoc with celiac disease b/w 5 – 16 % , 5 – 16 fold increase as compared to general population

Growth:

Growth BW, length and HC are less in DS Reduced growth rate Weight is less than expected for length in infants with DS, and then increases disproportion ally so that they are obese by age 3-4 yrs

Eye problems:

Eye problems Most common disorders are Refractory error – 35 to 76 percent Strabismus – 25 to 57 percent Nystagmus – 18 to 22 percent Cataract occur in 5 % of newborns. Frequency increases with age.

Hearing loss:

Hearing loss Unilateral or bilateral Conductive, sensorineural or mixed Otitis media is a frequent problem

Hematologic disorders:

Hematologic disorders The risk of leukemia is 1 to 1.5 percent. 65% of newborn have polycythemia resulting in hypoglycemia. Risk of AML and ALL is also much higher than the general population. Transient leukemia – exclusively affects NB. - It is asymptomatic with spontaneous resolution in 2-3 months. - Vesiculopustular skin eruptions are common and resolve with disorder.

Endocrine disorder:

Endocrine disorder Thyroid disease – Hypothyroidism occurs more frequently than hyperthyroidism. Diabetes – The risk of type 1 diabetes is three times greater than that of the general population.

Reproduction:

Reproduction Women with DS are fertile and may become pregnant. Nearly all males with DS are infertile. The mechanism is impairment of spermatogenesis

Atlantoaxial instability:

Atlantoaxial instability Excessive mobility of atlas (C1) and the axis (C2), may lead to subluxation of the cervical spine. Diagnosis made by lateral neck radiograph. Patients are advised to avoid contact sports.

Sleep apnea:

Sleep apnea Obstructive sleep apnea is more common.

Skin disorder:

Skin disorder Palmoplantar hyperkeratosis Seborreic dermatitis Fissured tongue Cutis marmorata Geographical tongue Xerosis

Diagnosis:

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

Management:

Management 1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS. This will help in prevention of obesity and early diagnosis of celiac disease and hypothyroidism. 2. Cardiac disease – All newborns should be evaluated by cardiac ECHO for CHD in consultation with pediatric cardiologist. 3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.

Management (cont.):

Management (cont.) 4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts. 5. Thyroid Function – Should be done in newborn period and should be repeated at six and 12 months , and then annually. 6. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs/Sx develop.

Management ( cont):

Management ( cont) Hematology – CBC with differential at birth to evaluate for polycythemia as well as WBC. Atlanto-axial instability – X ray for evidence of AAI or sub-luxation at 3 to 5 years of age. Alzheimer’s disease – Adult with a Down Syndrome has earlier onset of symptoms. When diagnosis is considered, thyroid disease and possible depression should be excluded.

Management:

Management Infant stimulation programmes Multisensory stimulation – cognition, emotion, physical Self-care activities Social skills Recreational activities Family therapy Future pregnancy risk Institutional care Parents organizations’ Benefits of yoga practice

Slide 42:

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.

Counseling:

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.

Slide 44:

QUESTIONS

T/F Regarding Down syndrome?:

T/F Regarding Down syndrome? Mainly occurs due to chromosomal translocation. Atlanto axial instability is a feature Common cardiac manifestation is ASD Intestinal atresia is a association Fetal USS shows increased nuchal fold thickness

T/F Regarding Down syndrome?:

T/F Regarding Down syndrome? Commoner than Trisomy 13 Short incurved little finger is a feature. Large head Never occurs in teenage mother Paternal age more than 35 is a cause

T/F Rfeatures of Down syndrome?:

T/F Rfeatures of Down syndrome? Immuno deficiency Hypertonia Hirschsprung’s disease Mental retardation Long neck

T/F Regarding Down syndrome?:

T/F Regarding Down syndrome? Non disjunction is a common cause High incidence is associated with increasing maternal age Cause haematological malignancies in later life. Antenal diagnosis is impossible Recurrence are commoner in Chromosomal Non disjunction than translocation

T/F Regarding Down syndrome?:

T/F Regarding Down syndrome? 5% are associated with congenital heart disease Also known as Trisomy 13 47 chromosomes are present in each cell. Ocular abnormalities are seen Usually death occurs during second decade

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