down syndrome (trisomy 21 syndrome) - care of .down syndrome (trisomy 21 syndrome) ... and tetralogy

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  • DOWN SYNDROME (TRISOMY 21 SYNDROME)

    List cardinal features of down syndrome in newborn period and later

    To Construct a health supervision planfor down syndrome in each age group

    To identify down syndrome antenatally

    To write 4 essential investigation for current management

    Trisomy 21 is the most common genetic cause of moderate mental retardation.

    The incidence of Down syndrome in live births is approximately 1 in 733; the

    incidence at conception is more than twice that rate; the difference is accounted

    by early pregnancy losses. In addition to cognitive impairment, Down syndrome is

    associated with congenital anomalies and characteristic dysmorphic features).

    Although there is variability in the clinical features, the constellation of

    phenotypic features is fairly consistent and permits clinical recognition of trisomy

    21. Affected individuals are more prone to congenital heart defects (50%) such as

    atrioventricular septal defects, ventricular septal defects, isolated secundum atrial

    septal defects, patent ductus arteriosus, and tetralogy of Fallot. Congenital and

    acquired gastrointestinal anomalies and hypothyroidism are common

  • trisomy with

    abnorm

  • ABNORMALITIES General. Hypotonia with tendency to keep mouth open and protrude the tongue, diastasis recti, hyperflexibility of joints, relatively small stature with awkward gait, increased weight in adolescence. Central Nervous System. Intellectual disability. Craniofacial. Brachycephaly; mild microcephaly with upslanting palpebral fissures; thin cranium with late closure of fontanels; hypoplasia to aplasia of frontal sinuses, short hard palate; small nose with low nasal bridge and tendency to have inner epicanthal folds. Eyes. Speckling of iris (Brushfield spots) with peripheral hypoplasia of iris; fine lens opacities by slit lamp examination (59%); refractive error, mostly myopia (70%); nystagmus (35%); strabismus (45%); blocked tear duct (20%); acquired cataracts in adults (30% to 60%). Ears. Small; overfolding of angulated upper helix; sometimes prominent; small or absent earlobes; hearing loss (66%) of conductive, mixed, or sensorineural type; fluid accumulation in middle ear (60% to 80%). Dentition. Hypoplasia, irregular placement, fewer caries than usual, periodontal disease. Neck. Short with loose folds of skin. Hands. Relatively short metacarpals and phalanges; hypoplasia of midphalanx of fifth finger (60%) with clinodactyly (50%), a single crease (40%), or both; simian

  • crease (45%); distal position of palmar axial triradius (84%); ulnar loop dermal ridge pattern on all digits (35%). Feet. Wide gap between first and second toes, plantar crease between first and second toes, open field dermal ridge patterning in hallucal area of sole (50%).

    Pelvis. Hypoplasia with outward lateral flare of iliac wings and shallow acetabular angle. Cardiac. Anomaly in approximately 40%; endocardial cushion defect, ventricular septal defect, patent ductus arteriosus, auricular septal defect, and aberrant subclavian artery, in decreasing order of frequency; mitral valve prolapse with or without tricuspid valve prolapse and aortic regurgitation by 20 years of age; risk for regurgitation after 18 years of age. Skin. Cutis marmorata, especially in extremities (43%); dry, hyperkeratotic skin with time (75%); infections in the perigenital area, buttocks, and thighs that begin as follicular pustules in 50% to 60% of adolescents. Hair. Fine, soft, and often sparse; straight pubic hair at adolescence.

    Genitalia. Relatively small penis and decreased testicular volume; primary

    gonadal deficiency is common and progressive from birth to adolescence and is

    definitely present in adults. Although rare, cases of fertility in females have been

    reported; no male has reproduced

    PRINCIPAL FEATURES IN THE NEONATE A physical examination is the most sensitive test in the first 24 hours of life todiagnose trisomy 21

    in an infant. If theclinician feels that enough criteria arepresent on physical examination, then

    a blood sample should be sent forchromosome evaluation. The clinicianshould alert the

    laboratory and requestrapid results. A study that usesfluorescent in situ hybridization (FISH)

    technology should be available within24 to 48 hours to facilitate diagnosisand parent counseling.

    A FISH studycan only indicate that an extra copy ofchromosome 21 is present; it cannotdetect

    translocations. Therefore, apositive FISH-test result should be confirmed by a complete

    chromosome analysis to identify translocations that may have implications for further

    reproductive counseling for the parents and possibly other family members.

  • Hypotonia 80% Poor Moro reflex

    85%

    Hyperflexibility of joints

    80%

    Excess skin on back of neck

    80%

    Flat facial profile

    90%

    Slanted palpebral fissures

    80%

    Anomalous auricles

    60%

    Dysplasia of pelvis

    70%

    Dysplasia of midphalanx of fifth finger

    60%

    Simian crease 45%

    CHROMOSOMAL TRISOMIES AND THEIR CLINICAL FINDINGS

    SYNDROME INCIDENCE CLINICAL MANIFESTATIONS

    Trisomy 13, Patau syndrome

    1/10,000 births

    Cleft lip often midline; flexed fingers with postaxial polydactyly; ocular hypotelorism, bulbous nose; low-set, malformed ears; microcephaly; cerebral malformation, especially holoprosencephaly; microphthalmia, cardiac malformations; scalp defects; hypoplastic or absent ribs; visceral and genital anomalies

    Early lethality in most cases, with a median

    survival of 7 days; 91% die by 1 year

    Trisomy 18, Edwards syndrome

    1/6,000 births

    Low birthweight, closed fists with index finger

    overlapping the 3rd digit and the 5th digit overlapping the 4th, narrow hips with limited

  • SYNDROME INCIDENCE CLINICAL MANIFESTATIONS

    abduction, short sternum, rocker-bottom feet, microcephaly, prominent occiput, micrognathia, cardiac and renal malformations, and mental retardation

    95% of children die in the 1st year

    Trisomy 8, mosaicism

    1/20,000 births

    Long face, high prominent forehead, wide upturned nose, thick everted lower lip, microretrognathia, low-set ears, high arched, sometimes cleft palate; osteoarticular anomalies common (camptodactyly of 2nd to 5th digits, small patella); deep plantar and palmar creases; moderate mental retardation

    HEALTH SUPERVISION FOR CHILDREN WITH DOWN SYNDROME

    CONDITION TIME TO SCREEN COMMENT

    Congenital heart disease

    Birth; by pediatric cardiologist

    Young adult for acquired

    valve disease

    50% risk of congenital heart disease. Increased risk for pulmonary hypertension

    Strabismus, cataracts, nystagmus

    Birth or by 6 mo; by pediatric

    ophthalmologist

    Check vision annually

    Cataracts occur in 15%, refractive errors in 50%

    Hearing impairment or loss

    Birth or by 3 mo with auditory brainstem response or otoacoustic emission testing; check hearing q6mo up to 3 yrs if tympanic membrane is not visualized; annually thereafter

    Risk for congenital hearing loss plus 50-70% risk of serous otitis media.

    Constipation Birth Increased risk for Hirschsprung disease

    Celiac disease At 2 years or with symptoms Screen with IgA and tissue transglutaminase antibodies

  • CONDITION TIME TO SCREEN COMMENT

    Hematologic disease

    At birth and in adolescence or if symptoms develop

    Increased risk for neonatal polycythemia (18%), leukemoid reaction, leukemia (

  • CONDITION TIME TO SCREEN COMMENT

    Autism spectrum

    disorder in 5-10%

    Early-onset Alzheimer

    disease

    Extracted from Committee on Genetics: Health supervision for children with Down syndrome, Pediatrics 107:442449, 2001; and Baum RA, Spader M, Nash PL, et al: Primary care of children and adolescents with Down syndrome: an update, Curr Prob Pediatr Adolesc Health Care 38:235268, 2008.

    HEALTH SUPERVISION NEWBORN TO 1 MONTH

    Heart defects (_50% risk). Perform an echocardiogram, to be read by a pediatric cardiologist, regardless ofwhether a fetal echocardiogramwas performed. Refer to a pediatric cardiologist for evaluation any infant whose postnatal echocardiogram results are abnormal. Feeding problems. Refer all infantswho have marked hypotonia as wellas infants with slow feeding, choking with feeds, recurrent pneumonia,or other recurrent or persistent respiratory symptoms and unexplained failure to thrive for a radiographic swallowing assessment.14,15 Cataracts at birth by looking for ared reflex. Cataracts may progress slowly and, if detected, need prompt evaluation and treatment by an ophthalmologist with experience in managing the child with Down syndrome. Congenital hearing loss, with objective testing, such as brainstem auditory evoked response or otoacoustic emission, at birth, according tothe universal newborn hearing screening guidelines. Complete any needed follow-up assessment by 3months.16,17

  • Duodenal atresia or anorectal atresia/stenosis by performing a historyand clinical examination. Apnea, bradycardia, or oxygen desaturationin a car safety seat forinfants who are at increased risk because they have had cardiac surgeryor are hypotonic. A car safetyseat evaluation should be conductedfor these infants before hospitaldischarge.18 Constipation. If constipation is present,evaluate for restricted diet orlimited fluid intake, hypotonia, hypothyroidism,or gastrointestinal tractmalformation, including stenoses or Hirschsprung disease,

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