DOWN SYNDROME-PG DISCUSSION

2 yr old trisomy 21 CHILD is admitted with pneumonia. He has evidence of rickets and an os asd of 5 mm .His thyroid screen is normal. Hearing is normal. He has anemia probably iron deficiency. His previous blood smears are normal. His mother who is 32 is planning her next child. Parents are keen to give good care to this child and wants to know how they can prevent recurrence

Which all tests are available for prenatal testing?

The addition of other serum analytes to second-trimester screening has improved Down syndrome detection rates to approximately 80 percent for the quadruple marker test
First-trimester screening at 11 to 14 weeks’ gestation, using the fetal nuchal translucency measurement together with serum analytes, has achieved Down syndrome detection rates comparable to those for second-trimester screening in women younger than 35 years (American College of Obstetricians and Gynecologists, 2013c).
Combinations of first- and second-trimester screening yield Down syndrome detection rates as high as 90 to 95 percent (Malone, 2005b).
Maternal serum cell-free fetal DNA testing for trisomy 21, 18, and 13 has become available as a screening test for high-risk pregnancies, with a 98-percent detection rate and a false-positive rate of 0.5 percent (American College of Obstetricians and Gynecologists, 2012b; Bianchi, 2012; Palomaki, 2011, 2012).

With the exception of cell-free fetal DNA testing, each first- and/or second-trimester aneuploidy screening test is based on a composite likelihood ratio, and the maternal age-related risk is multiplied by this ratio. This principle also applies to modi- fication of the Down syndrome risk by selected sonographic findings. Each woman is provided with a specific risk

What is the age based risk of downs syndrome?

35 =1/250
36 =1/192
37 = 1/149
38 = 1/115
39 =1/89
40 =1/69
41 =1/53
42 = 1/41
43 =1/31
44 = 1/25
45 = 1/19 e

What is cell free dna testing?

Cell-Free Fetal DNA Screening Using massively parallel sequencing or g chromosome selective sequencinto isolate cell-free fetal DNA from maternal plasma, g fetal Down syndrome and other autosomal trisomies may bedetected as early as 10 weeks’ gestation. Recent trials of these techniques in high-risk pregnancies haveyielded detection rates for trisomies 21, 18, and 13 of approxi-mately 98 ercent at a false-positive rate of 0.5 percent or less(American College of Obstetricians and ynecologists, 2012b; Bianchi, 2012; Palomaki, 2011, 2012; Sparks, 2012). This novel technology has recently become linically available as ascreening test, but it is not considered a replacement diagnos-tic test. Pretest counseling is recommended. If an abnormalresult is identified, genetic counseling should be performed,and invasive prenatal diagnostic testing should be offered toconfirm the results. The merican College of Obstetricians andGynecologists (2012b) currently recommends that the test may be offered to the following groups:
Women 35 years or older at delivery
Those with sonographic findings indicating increased risk for fetal aneuploidy
Those with a prior pregnancy complicated by trisomy 21, 18, or 13
Patient or partner carries a balanced robertsonian transloca-tion indicating increased risk for fetal trisomy 21 or 13
Those with an abnormal first-, second-, or combined first- and second-trimester screening test result for aneuploidy.

The College does not recommend offering the test to women with low-risk pregnancies or multifetal gestations (American College of Obstetricians and Gynecologists, 2012b).

What are the first trimester anomalies by usg ?

First-Trimester Sonographic FindingsUnlike second-trimester soft signs, which may be readily visibleduring a standard sonogram, first-trimester findings associatedwith aneuploidy require specialized training. The fetal NT isunique in that it has become a component of aneuploidy screen-ing offered to all women. Other first-trimester findings associ-ated with an increased risk for fetal Down syndrome includean absent fetal nasal bone, wider frontomaxillary facial angle— indicating a flat facial profile, tricuspid regurgitation, andabnormal ductus venosus flow (Borenstein, 2008; Cicero, 2001;Faiola, 2005; Huggon, 2003; Matias, 1998; Sonek, 2007). Each has also been associated with an increased risk for trisomies 18and 13 and other aneuploidies. However, these signs have notbecome widely adopted for routine use in the United States.

Fetal Nasal Bone.

In approximately two thirds of fetuseswith Down syndrome, the nasal bone is not isible at the 11-to 14-week examination (Cicero, 2004; Rosen, 2007; Sonek,2006). Currently, this is the only first-trimester marker, otherthan NT, for which the Nuchal Translucency Quality Review Program has established a training program. Criteria for ade-quate assessment include that the fetus occupies most of theimage; that there be a 45-degree angle of insonation with the fetal profile; that the profile be well defined in the midsagittalplane, with the tip of the nose and the third and fourth ven-tricles visible; and that the nasal bone brightness be greater than or equal to that of the overlying skin (Nuchal TranslucencyQuality Review Program, 2013). An example is shown inFigure 14-5. Initial optimism for this marker was somewhatdampened when the FASTER (First- and Second-TrimesterEvaluation of Risk) trial concluded that difficulty in perform- ing the assessment would limit its usefulness for aneuploidyscreening (Malone, 2004, 2005a).

How to identify down syndrome in newborn period?

Hall’s ten cardinal features of trisomy 21 syndrome in the newborna

Feature =Percent

Hypotonia =80

Poor Moro reflex= 85

Hyperextensibility 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

Brachymesophalangy of fifth finger =60

Single palmar crease =45

a100% have at least four features and 89% have six or more features.

(Based on B Hall, Acta Paediatr Scand (Suppl) 154:1, 1964

What is the cytogenetics?

Cytogenetics and recurrence risks. Approximately 95% of all cases of Down syndrome result from nondisjunction. Although the syndromeoccurs in offspring of mothers of all ages, the risk increases with increasingmaternal age. Nondisjunction may occur during the first or the second meiotic division in either the female or male parent (. The possibility of paternal age effect has been discussed by several investigators (145,167).
The recurrencerisk for free trisomy 21 in couples with one affected child is generally accepted to be 1% (168). Rarely, unusual recurrences of free trisomy 21 are reported, such as three affected first cousins (23). Approximately 1 in 200 patients with trisomy 21 syndrome has a double primary nondisjunction, the most frequent type being 48,XXY,+21(78).
Approximately 4.8% of Down syndrome cases are caused by an unbalanced translocation, either arising de novo or being transmitted from one of the parents (70). The recurrence risks for translocation-type Down syndrome when one parent is a carrier

Type of translocation =Risk (%)

D/G maternal = 10

D/G paternal =2–5

G/G (21/22) =4

G/G (21/22) = 100b

Detectable mosaicism is found in approximately 3% of trisomy 21 cases (79); the Down syndrome phenotype may not be fully expressed. Mosaic normal/trisomy 21 patients show a significantly decreasing percentage of trisomy 21 cells with age (130,183). If gonadal mosaicism occurs in a parent, it is possible to have a child with Down syndrome (77).
Fertility in femaleDownsyndrome patients has been well documented. Not uncommonly, a male relative is the parent. In about 50% of cases, the offspring has Down syndrome. Fertility in male Down syndrome patients is probably severely reduced but documented examples of fatherhood have been published

What are the common diagnostic fearures?

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

Newborn

Hall (76) noted 10 common signs in the newborn period: hypotonia, poor Moro reflex, hyperextensibilityof joints, loose skin on the nape, flat facial profile, up-slanting palpebral fissures, short ears with overhanging helices, dysplastic pelvis, clinodactyly of fifth fingers, and single palmar creases. At least four of these abnormalities were present in all of his cases, and six or more were present in 89%

What is the natural history?

Muscle tone tends to improve with age, whereas the rate of developmental progress slows with age. Forexample, 23% of a group of children with Down syndrome who were younger than 3 years had a developmental quotient above 50, whereas none of those in the 3- to 9-year group had intelligence quotients above 50. Although the IQ range is generally said to be 25 to 50, with an occasional individual above 50, the mean IQ for older patients is 24. Fortunately, social performance is usually beyond that expected for mental age, averaging 3⅓ years above mental age for the older individuals.
Generally “good babies” and happy children, individuals with Down syndrome tend toward mimicry, are friendly, have a good sense of rhythm, and enjoy music. Mischievousness and obstinacy may also be characteristics, and 13% have serious emotional problems. Coordination is often poor, and the voice tends to be harsh. Early developmental enrichment programs for Down syndrome children have resulted in improved rate of progress during the first 4 to 5 years of life. Whether such training programs will appreciably alter the ultimate level of performance remains to be determined.
Sleep-related upper airway obstruction occurs in approximately one third of cases. Growth is relatively slow, and during the first 8 years, secondary centers of ossification are often late in development. However, during later childhood, the osseous maturation is more “normal,” and final height is usually attained around 15 years of age.
Adolescent sexual development is usually somewhat less complete than normal. Because thyroid dysfunction is common and can be easily missed, periodic thyroid function studies should be performed. Life expectancy is 58.6 years, and 25% live beyond 62.9 years. Alzheimer’s disease is common. By 60 years of age, 50% to 70% of affected individuals develop dementia.
The major cause for early mortality is congenital heart defects. Mortality from respiratory disease, mainly pneumonia, as well as other infectious diseases, is much higher than in the general population. Although leukemia has frequently appeared on death certificates of affected individuals, other neoplasms were listed less than one tenth as often as expected.
Neutrophilia, thrombocytopenia, and polycythemia are common. Ten percent of newborns present with a transient myeloproliferative disorder characterized by a clonal population ofmegakaryoblasts. Low-grade problems that occur frequently are chronic rhinitis, conjunctivitis, and periodontal disease.
Immunologic dysfunction, including both T-cell and B-cell derangement, has been demonstrated, as has the frequent occurrence of hepatitis B surface antigen carrier state. Therefore, HBV vaccination is advised.
Although asymptomatic atlantoaxial dislocation occurs in 12% to 20% of individuals with Down syndrome, symptoms referable to compression of the spinal cord are rare. Unfortunately, the literature regarding radiographic screening for this finding is controversial. No study to date has documented that radiographic findings can predict which children will develop neurologic problems. Any child with Down syndrome who develops changes in bowel or bladder function, neck posturing, or loss of ambulatory skills should be evaluated carefully with plain roentgenograms of the cervical spine. The majority of patients develop symptoms before 10 years of age, when the ligamentous laxity is most severe.

How to super vise health in newborn?

HEALTH SUPERVISION FROM BIRTH /TO 1 MONTH: NEWBORN INFANTS

. Evaluate for

Heart defects (_50% risk). Performan echocardiogram, to be read by apediatric cardiologist, regardless ofwhether a fetal echocardiogramwas performed. Refer to a pediatriccardiologist for evaluation any infantwhose postnatal echocardiogramresults are abnormal.

Feeding problems. Refer all infantswho have marked hypotonia as wellas infants with slow feeding, chokingwith feeds, recurrent pneumonia,or other recurrent or persistentrespiratory symptoms and unexplainedfailure to thrive for a radiographicswallowing assessment.14,15
Cataracts at birth by looking for ared reflex. Cataracts may progressslowly and, if detected, need prompt evaluation and treatmentby an ophthalmologist with experiencein managing the child WithDown syndrome.
Congenital hearing loss, with objectivetesting, such as rainstem auditoryevoked response or otoacousticemission, at birth, according tothe universal newborn hearingscreening guidelines. Complete anyneeded 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 for infants who are at increased riskbecause 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 stenosesor Hirschsprung disease, for whichthere is an increased risk.
Gastroesophageal reflux, which isusually diagnosed and managedclinically. If severe or contributingto cardiorespiratory problems orfailure to thrive, refer for subspecialtyintervention.
Stridor, wheezing, or noisy breathing.If severe or contributing to cardiorespiratoryproblems or feedingdifficulty, refer to pediatric pulmonologistto assess for airwayanomalies. Tracheal anomalies andsmall tracheal size may also makeintubation more difficult
Hematologic abnormalities. Obtain acomplete blood cell count. Leukemoidreactions, or transient myeloproliferativedisorder (TMD). TMD is found almostexclusively in newborn infantswith Down syndrome and is relativelycommon in this population (10%).19TMD usually regresses spontaneouslywithin the first 3 months of life, butthere is an increased risk of later onset of leukemia for these patients(10%–30%).20 Polycythemia is alsocommon in infants with Down syndrome(18%–64%)21 and may requirecareful management. Infants withTMD and polycythemia should be followedaccording to subspecialty onsultationrecommendations. Parentsof infants with TMD should be counseledegarding the risk of leukemiaand made aware of the signs, includingeasy bruising, petechiae, onset oflethargy, or change in feeding patterns.Leukemia is more common inchildren with Down syndrome than inthe general population but still rare(1%)
Congenital hypothyroidism (1% risk).Obtain thyroid-stimulating hormone(TSH) concentration if state newbornscreening only measures free thyroxine(T4); congenital hypothyroidismcan be missed if only the T4 concentrationis obtained in the ewbornscreening. Many children with Downsyndrome have mildly elevated TSHand normal free T4 levels. Managementof children with abnormal thyrotropinor T4 concentrations should bediscussed with a pediatricendocrinologist

How to supervise health in 1 month to 1 yr?

HEALTH SUPERVISION FROM 1 MONTH TO 1 YEAR: INFANCY Physical Examination and Laboratory Studies

Review the risk of serous otitis media (50%–70%). Review the previous hearing evaluation (brainstem auditoryevoked response [BAER, ABR] or otoacousticemission). If the child passedthe screening study, rescreen at 6Imonths of age for confirmation. If theinfant failed to pass screening studies,refer to an otolaryngologist who iscomfortable with examining infantswith stenotic external canals to determineif a middle-ear abnormality is present. Tympanometry may be necessaryif the tympanic membrane ispoorly visualized. Middle-ear diseaseshould be treated promptly. Once aclear ear is established, a diagnosticBAER should be performed to accurately establish hearing status
. In childrenwith stenotic canals, in whichthe tympanic membranes cannot beseen, refer to an otolaryngologist for examination under an office microscope.Interval ear examinationsshould be performed by the otolaryngologistevery 3 to 6 months until the tympanic membrane can be visualized by the pediatrician and tympanometry can be performed reliably. Abehavioral audiogram may be attempted at 1 year of age, but many childrenwill not be able to complete the study and may need additional testingby BAER.30,31
At least once during the first 6 months of life, discuss with parentssymptoms of obstructive sleep apnea, including heavy breathing, snoring, uncommon sleep positions, frequent nightawakening, daytime sleepiness, apneic pauses, and behavior problemsthat could be associated withpoor sleep. Refer to a physicianwith expertise in pediatric sleepdisorders for examination and furtherevaluation of a possible sleep disorder if any of the abovementioned symptoms occur.32,33
At each well-child visit, discuss with parents the importance of maintaining the cervical spine in a neutral position during any anesthetic, surgical, or radiographic procedure tominimize the risk of spinal cord injury and review the signs andsymptoms of myelopathy. Perform careful history and physical examination,and pay attention for myelopathicsigns and symptoms.
Within the first 6 months of life, refer to a pediatric ophthalmologist or ophthalmologist with expertiseand experience with infants with disabilities to evaluate for strabismus, cataracts, and nystagmus.34 Check the infant’s vision at each visit and use developmentally appropriatesubjective and objectivecriteria. If lacrimal duct obstructionis present, refer for evaluation forsurgical repair of drainage systemif not resolved by 9 to 12 months ofage.35
Verify results of newborn thyroidfunction screen if not previously performed. Because of increased risk of acquired thyroid disease, repeatmeasurement of TSH at 6 and12 months of age and then annually.
Monitor infants with cardiac defects,typically ventricular or Atrioventricular septal defects that cause intracardiac left-to-right shunts, for symptoms and signs of congestive heart failure as pulmonary vascular resistance decreases and pulmonary blood flow increases. Tachypnea, feeding difficulties, and poor weight gain may indicate heart failure. Medical anagement,including nutritional support,may be needed until the infantcan undergo cardiac surgery to repairthe defects. For patients withlarge ventricular septal defects andwithout obstruction to pulmonaryblood flow, Repair should be performedbefore 4 months of age tolimit the potential for developmentof pulmonary hypertension and associatedcomplications. Infants and children with Down syndrome arealso at increased risk of pulmonary hypertension even in the absence of intracardiac structural Defects.
Obtain hemoglobin concentration beginning at 1 year of age and annuallythereafter. Children with Downsyndrome have been shown to havesignificantly lower dietary intakesof iron than their typically developingpeers.36 Increased erythrocytemean corpuscular volume (MCV)has been reported in 45% of patients with Down syndrome with andwithout heart disease, and when MCV is decreased, it occurs at Approximately the same time as anemia. 37 Therefore, MCV is not usefulin screening for the diagnoses of iron deficiency, lead toxicity, or thalassemia in children with Down syndrome. Serum ferritin concentrationis a sensitive parameter forassessment of iron stores in healthysubjects but is an acute-Phase reactantand may be increased in thepresence of chronic inflammationor infection and should be evaluated together with C-reactive protein (CRP) concentration. An elevated CRP level is an indication that a normal ferritin level may be falsely elevated and is not a reliable indicationof normal iron status. Serum ferritin and CRP or reticulocyte Hemoglobin (CHr) concentrations should be obtained at annual visits for patients who are at increased risk of iron deficiency on the basis of a historyof decreased iron intake.38–42
Monitor for signs of neurologic dysfunction that may occur. Childrenwith Down syndrome have an increased risk of seizures, including infantile spasms (1%–13%)43,44 and other conditions including Moyamoya disease.45
Administer immunizations, including influenza vaccine and other vaccines recommended for all children, unless there are specific contraindications.46

Anticipatory Guidance

Monitor weight and follow weightfor- height trends at each healthcare visit. Review the infant’sgrowth and plot it by using the standardgrowth charts of the NationalCenter for Health Statistics or theWorld Health Organization.47

Review availability of Down syndrome support groups at least once in the first year of life (see “Resources for Parents”).

Assess the emotional status of parents and intrafamilial relationships at each well-child visit. Educate and support siblings and discuss sibling adjustments.

Review connection to earlyintervention services and their relationshipto the strengths and needs of the infant and family at each wellchild visit.

Review the family’s understanding of the risk of recurrence of Down syndrome and the availability ofprenatal diagnosis at least once in the first year of Life and more often ifjudged necessary by the clinician.Refer for genetic counseling if notalready provided.

Be prepared to discuss and answer questions about treatments that are considered complementary and alternative at each well-child visit

How to supervise health between 1 to 5 yrs?

1 YR TO 5 YRS

Obtain a history and perform aphysical examination, and give attention to growth and developmental status at every well-child visit.

Review the risk of hearing loss associated with serous otitis media. Fora child who passed diagnostic hearingtesting, additional screening orbehavioral audiogram and tympanometry should be performed every6 months until normal hearing levelsare established bilaterally by ear-specific testing (usually after 4years of age). Subsequently, behavioralhearing tests should be performedannually. If normal hearingis not established by behavioraltesting, additional screening by otoacoustic emissions or diagnosticBAER should be performed withsedation if necessary. Children who demonstrate a hearing loss should be referred to an otolaryngologist who is comfortable with the examination of children with stenotic ear canals. The risk of serous otitis media between 3 and 5years of age is approximately 50%to 70%.

Check the child’s vision, and use developmentallyappropriate subjective and objective criteria at eachwell-child visit. Refer the childannually to a pediatric ophthalmologistor ophthalmologist with special expertise and experience withchildren with disabilities.
Childrenwith Down syndrome have a 50%risk of refractive errors that leadto amblyopia between 3 and 5years of age. Addressing refractiveerrors and strabismus at anearly age can help prevent amblyopia and encourage normal visualdevelopment.34,49–51

Atlantoaxial Instability

Discuss with parents, at least biennially,the importance of cervical spinepositioningprecautions for protection of the cervical spine during any anesthetic,surgical, or radiographic procedure.
Perform careful history andphysical examination with attention to myelopathic signs and symptoms at every well-child visit or when symptomspossibly attributable to spinalcord impingement are reported. Parents should also be instructed to contacttheir physician for new onset ofsymptoms of change in gait or use ofarms or hands, change in bowel orbladder function, neck pain, stiff neck, head tilt, torticollis, how the child positionshis or her head, change in general function, or weakness.

The Asymptomatic Child

Children with Down syndrome are atincreased risk of atlantoaxial subluxation.However, the child must be 3 years of age to have adequate vertebra lmineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine.52 Plain radiographs do not predict well which children are at increased risk of developingspine problems, and normal radiographsdo not provide assurance ethat a child will not develop spine problemslater.53,54 For these reasons, routine radiologic evaluation of the cervicalspine in asymptomatic children is not recommended.
Current evidencedoes not support performing routinescreening radiographs for assessmentof potential atlantoaxial instability in asymptomatic children.55–64
Parents should be advised that participation in some sports, including contactsports such as football and soccer and gymnastics (usually at olderages), places children at increasedrisk of spinal cord injury65 and that trampoline use should be avoided byall children with or without Down syndrome younger than 6 years and byolder children unless under direct professional supervision.66,67 Special Olympics has specific screening requirementsfor participation in some sports.68

The Symptomatic Child

Any child who has significant neck pain, radicular pain, weakness, spasticityor change in tone, gait difficulties,hyperreflexia, change in bowel orbladder function, or other signs or symptoms of myelopathy must undergoplain cervical spine radiographyin the neutral position.55,65 If significant radiographic abnormalities are presentin the neutral position, no furtherradiographs should be taken and thepatient should be referred as quicklyas possible to a pediatric neurosurgeon or pediatric orthopedic surgeonwith expertise in evaluating and treating atlantoaxial instability. If no significant radiographic abnormalities are present, flexion and extension radiographs may be obtained before the patient is promptly referred

Measure TSH annually or sooner ifchild has symptoms that could be related to thyroid dysfunction.

For children on a diet that contains gluten, at each preventative carevisit review for symptoms potentially related to celiac disease, includingdiarrhea or protracted constipation, slow growth, unexplainedfailure to thrive, anemia, abdominalpain or bloating, or refractory developmentalor behavioralproblems.69–71 For those with symptoms,obtain a tissue transglutaminaseimmunoglobulin A (IgA) level and simultaneousquantitative IgA. Thequantitative IgA is important, becausea low IgA level will result in afalse-negative tissue transglutaminase IgA result. Refer patients withabnormal laboratory values forspecialty assessment.
There is noevidence showing routine screeningof asymptomatic individuals as being beneficial. There are neitherdata nor consensus that would indicatewhether patients with persistentsymptoms who had normallaboratory values on initial evaluationshould have further laboratorytests.

Discuss symptoms of obstructive sleep apnea, including heavybreathing, snoring, restless sleep,uncommon sleep positions, frequentnight awakening, daytimesleepiness, apneic pauses, and behavior problems, that could be associatedwith poor sleep at eachwell-child visit. There is poor correlation between parent report and polysomnogram results.33,72 Therefore,referral to a pediatric sleepl aboratory for a sleep study or polysomnogramfor all children withDown syndrome by 4 years of age isrecommended. Refer to a physician with expertise in pediatric sleep anychild with signs or symptoms of obstructive sleep apnea or abnormal sleep-study results. Discuss obesityas a risk factor for sleep apnea.34 Itis recognized that access to a pediatric sleep laboratory or specialist may be limited for some populationsand geographic areas.
Maintain follow-up with a pediatric cardiologist for patients with cardiac lesions even after complete repairto monitor for recurrent/residual lesions as well as development of pulmonary hypertension
Monitor for neurologic dysfunction,including seizures.
Obtain hemoglobin concentrationannually. Also, obtobtain serum ferritinand CRP concentrations for anychild at risk of iron deficiency

How to supervise health in 5 to 13 yrs?

Obtain a history and perform aphysical examination with attentionto growth and developmental status at each annual well-child visit
Monitor growth patterns, especiallyBMI, and emphasize healthy diet and lifestyle for preventing obesity.
Obtain annual ear-specific audiologic evaluation.
Obtain ophthalmologic evaluation every 2 years.
Measure TSH annually; the risk of hypothyroidism increases withage.
Individualize cardiology follow-up on the basis of history of cardiac defects.
Obtain hemoglobin concentration annually and serum ferritin and CRP or reticulocyte hemoglobin concentrations at annual visits for anychild at risk of iron deficiency on the basis of history of decreased iron intake.
For children on a diet that contains gluten, review for symptoms potentially related to celiac disease at every health maintenance visit andevaluate if indicated.
At each well-child visit, discuss withparents the importance of universal precautions for protection of the cervical spine during any anesthetic,surgical, or radiographic procedure. Perform careful history and physical examination with attentionto myelopathic signs and symptoms. Parents should also be instructed to contact their physician immediately for new onset ofsymptoms of myelopathy.
Counsel parents that some sports place children at increased risk ofspinal cord injury.65–67
Monitor for neurologic dysfunction,including seizures.
Very dry skin, which may be a sign ofhypothyroidism, and other skinproblems are particularly commonin patients with Down syndrome.Therefore, be attentive to these dermatologic problems and discussthem with the patient and family.
Discuss symptoms related to obstructivesleep apnea at every wellchildvisit, including snoring, restlesssleep, daytime sleepiness,nighttime awakening, behavior problems, and abnormal sleep position. Refer to a physician with expertise in pediatric sleep any child with signs or symptoms of obstructive sleep apnea or abnormal sleepstudy results. Discuss obesity as a risk factor of sleep apnea

How to supervise health from 13 yrs to 21?

HEALTH SUPERVISION FROM 13 TO 21 YEARS OR OLDER: ADOLESCENCE TO EARLY ADULTHOOD

Physical Examination and Laboratory Values

Measure hemoglobin concentration annually.

Measure TSH concentration annually.
Obtain annual ear-specific audiologic evaluation.
For children on a diet that contains gluten, review for symptoms potentially related to celiac disease at every health maintenance visit, and evaluate if indicated.
Individualize cardiology follow-up on the basis of history of cardiacdefects. Discuss symptoms elated to obstructive sleep apnea,including snoring, restless sleep, daytime sleepiness, nighttimeawakening, behavior problems, and sleep position at every healthmaintenance visit. Refer to a physician with expertise in pediatricsleep any child with signs or symptomsof obstructive sleep apnea or an abnormal sleep-study result.Discuss the risk factor of obesity for sleep apnea.

Discuss with parents and the patient at every visit the importance ofcervical spine-positioning precautionsfor protection of the cervicalspine during any anesthetic, surgical, or radiographic procedure. Performcareful history and physicalexamination with attention to myopathicsigns and symptoms. Parents and patients should also be instructedto contact their physician immediately for new onset of symptomsof myopathy.
Counsel parents that some sportsplace children at increased risk of spinal cord injury.65–67
Monitor for signs of other neurologic dysfunction, including seizures.
Obtain ophthalmologic evaluation every 3 years. Check for onset ofcataracts, refractive errors, and keratoconus, which can causeblurred vision, corneal thinning, or corneal haze and is typically diagnosedafter puberty.

Examine annually for acquired mitraland aortic valvular disease in older patients with Down syndrome.An echocardiogram should be obtained if there is a history of increasingfatigue, shortness of breath, or exertional dyspnea or abnormalphysical examination findings, such as anewmurmuror gallop.Discuss skin, hair, and scalp care at each preventive health care visit.

Anticipatory Guidance at Every Health Maintenance Visit

Discuss issues related to transition into adulthood, including guardianshipand long-term financial planning from early adolescence. Potentialadult morbidities including apparent tendency toward premature agingand increased risk of Alzheimer disease may also be discussed.87

Monitor growth patterns, especially BMI, and counsel regarding healthy dietand a structured exercise program.

Discuss behavioral and socialstates and refer patients who have chronic behavioral problems ormanifest acute deterioration in function for specialized evaluationand intervention.88,89

Discuss appropriateness of schoolplacement, and emphasize planning for transition to adulthood and adequatevocational training within the school curriculum.90,91

Talk with the female patient and her family about the recurrence risk ofDown syndrome should she become pregnant.

Continue to assess, monitor, and encourage independence with hygieneand self-care. Provide guidance on healthy, normal, and typical sexualdevelopment and behaviors. Emphasize the need for understandable information,and encourage opportunities for advancing comprehensionof sexuality. Discuss the need for contraception and prevention ofsexually transmitted diseases and the degree of supervision required.Advocate for the least invasive and least permanent method of birthcontrol and be familiar with local law and resources to assist the familyin their decision-making regarding questions about sterilization.86

Make recommendations and provide or refer for routine gynecologic careif not already provided. Discuss premenstrual behavioral problems andmanagement of menses.92

Discuss group homes and independentliving opportunities, workshop settings, and other community supported employment.
Discuss intrafamily relationships, financialplanning, and guardianship.
Facilitate transition to adult medicalcare.93

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