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Article

Special Article Indian J Pediatr 1996; 63 : 121-126

 

   I Optimal Care for Children with Down Syndrome in India

I.C. Verma, Madhulika Kabra and Arun K. Gangakhedkar Genetics Unit, Department'of Pediatrics, All India Institute of Medical Sciences, New Delhi Abstract. Medical problems which arise in Down Syndrome are reviewed.
Guidelines for management including early diagnosis of congenital heart defects, gastrointestinal anomalies, eye problems, hearing defects, thyroid dysfunction, at lanto-axial instability, prognosis for mental retardation, and role of eady stimulation are provided. Prenatal diagnosis in high risk pregnancies is recommended. (Indian J Pediatr 1996; 63 : 121-114) Key words : Down syndrome; Management, Counselling, Prenatal diagnosis.

Down syndrome (DS) is the most com- mon chromosomal anomaly present at birth. Since John Langdon Down wrote his classic paper in 1886 on this condition,

  Significant progress has been made in bio- medicine relating to Down syndrome. Many medical problems
    have been identified in these children which should be prevented or managed appropriately.The mean
    incidence of Down syndrome is about I : 800 live births.

  A meta-analysis of studies of births at hospitals in India revealed the incidence of DS to be I : 820 newborns.

  In a more recent study in Delhi carried out by pediatricians with training in dysmorphology, the incidence was
    1.20/1000 live births amongst 14000 new-borns screened(unpublished data).The incidence increases with
    advancing maternal age rising from I : 1528 at age 20, to 1 : 384 at age 35, and 1 in 112 at age 40 years.

  Reprint requests: Dr. I.C. Verma, Professor of Pediatrics, Genetics Unit, Department of Pediatrics, W.H.O.
    Collaborating Centre in Genetics, All India Institute of Medical Sciences, New Dethi-110 029. Recently a
    group of international ex- perts which included one of the authors, developed guidelines for the management
   of Down syndrome for the International League of Societies for Mental Handicap.

  These guidelines for managing children with DS are not directly applicable in ocountry due to limited
    resources but the minimal required care should be provided. In this paper we have evaluated and
    modified the guidelines keeping in mind the health care and socio-economic situation in India.
    L Early diagnosis Down syndrome is easily identifiable clinically, and Table 1 provides a short
    check-list of clinical features.
  Diagnosis may be difficult in the neonatal period. Karyotype is required to confirm the diagnosis. Most
    cases manifest "free" trisomy 21 which follows a non-disjunctional event that is maternal in 95% of cases
    and is paternal in 5% of cases.In a cytogenetic study of 645 cases of DSin Delhi free trisomy 122
    THE INDIAN JOURNAL OF PEDIATRICS 1996; VoL 63. No.1 TA~E 1.
    Check List for Down Syndrome
    Head Face Mouth Ears Eyes Neck Hands Feet Joints & muscles Heart Reflexes Brachycephaly with fiat
    occiput, wide open fontanel Flat facial profile*, fiat nasal bridge Habitually open furrowed/protruding
    tongue Dysplastic*,small, low set Upward slant of palpebral fissures*, epicanthic folds, squint, speckled
    iris Short & broad, abundant neck skin* Short & broad, small fingers es- pecially 5th finger, dysplastic
    middle phalanx of 5th finger*, clinodactyly, Simian crease Increased space between 1 & 2 toes, furrow
    on the sole extending from space between 1 & 2 toes Hypotonia* Hyper-extensibility/hyper-flex- ~ty"
    Murmur, cyanotic or acyanotic defect
    Lack of Moro reflex*
    * Useful for making a diagnosis in the newborn. was detected in 93%, translocation in 4% and mosaicism
     in 2.6% of patients. 8 Trans- location is not related to maternal age.

   II Counselling


The parents of child with DS should be counselled with tact, compassion and truthfulness. Briefly,
  • Inform about the disorder as early as possible after diagnosis is firmly made.
  • Counsel in presence of both the parents in privacy, with the mother holding the baby comfortably.
  • Talk in simple and positive language giving hope, and allow sufficient time to the parents to ask questions.
  • Discuss known problems and associated disorders.
  • Highlight importance of early stimulation.
  • Do not talk about institutionalisation and adoption, unless asked.Both these options should be discouraged.
  • Ask the parents to contact the local Down syndrome association, if one exists.
  • Talk about genetics only after chromosomal analysis.
  • Inform about recurrence risks and possibilities of prenatal diagnosis.
  • Schedule future appointments.

   III Congenital heart disease

    The presence of congenital heart disease is the most significant factor in determining survival in infants with DS.
     In the absence of heart disease mote than 90% of children with DS are alive at one year of age and about 85% at
    10 years of age.9 About 40% of infants with DS have an associated cardiac malformation.1~ Endocardial cushion
    defects account for 40-60% of the heart defects, whereas ventricular septal defect, tetralogy of Fallot and atrial
    septal defect ac- count for most of the remainder. 8,
    11. All children with DS, even those without an aud~le cardiac murmur should have cardiac evaluation sometime
    before9 months of age.This should ideally include an echocardiogram.
    12 If this is not feasible an electrocardiogram must always be performed, as it reveals the abnormal axis present
    in atrioventricular canal defect and indicates the presence of pulmonary vas-i996;VoL 63. No.1
     THE INDIAN JOURNAL OF PEDIATRICS 123 cular obstructive disease which makes surgery difficult. :2

   IV Gastrointestinal anomalies

    Gastrointestinal anomalies like atresias are seen in 12% of cases and Hirschsprung disease in < 1% of cases.
    13 Conditions like tracheo-esophageal fistula with atresia, duodenal atresia, aganglionic megacolon, imperforate
    anus etc. require surgical intervention.All infants with these anomalies should be examined carefullv for features of
    Down syndrome.

   V Eye problems

    Children with DS are at increased risk for cataracts, strabismus and nystagmus which present in the neonatal period
    or in- fancy.Abnormalities of visual acuity occur in the preschool age group. Routine refer- ral during the first year,
    4th year and three yearly ophthhalmologic evaluation after 10 years of age is recommended.6'9

   VI Hearing defects

    Of children with DS 40-60% suffer from conductive hearing loss.Presumptively significant percentage of conductive
    loss is caused by chronic serous otitis media. About 20-30% of children With DS have some degree of neurosensory
    loss. 9 Routine audiologic evaluation during the first year and 3 yearly examinations till school age are recommended. 9

   VII Thyroid dysfunction

  The precise mechanism of thyroid dysfunction in DS is unknown.13-54% of older individuals with DS have biochemical
  evidence of hypothyroidism.14 There is an increased incidence of congenital hypothyroidism in newborns with DS.
   1s,16 In about 30% of children with DS there is evidence of subclinical hypothyroidism(elevated TSH with normal T4).
  Thyroid auto-antibodies are present in 13-40% of children.9 We recommend a thyroid function test once in the neonatal
   period or at first contact and then every three years.Thyroxin supplementation is to be given to children with overt or
  subclinical hypothyroidism.

   VIII Atlanto-occipital subluxation

  The atlanto-axial instability is probably caused by ligamentous laxity around C1-C 2 area.The reported incidenceis
  variable with a range of 10-30%.17'~8 Diagnosis is made if on upper cervical spine radiographs the atlanto-dens
  interval is more than 5 mm.The positive predictive value for symptomatic aflanto axial instability after a positive
  radiograph is low. 18 The incidence of neurological problems associated with, and probably secondary to, aflanto-
  axial instability is thought to be 2-3% of all patients with DS who survive infancy. :9 Cord compression leads to
   pyramidal tract signs including hyperreflexia, extensor plantar responses, ankle clonus, qua6ri-, hemi-, or
  paraplegia, muscle weakness, sensory deficits and neurogenic bladder.In addition to these difficulty in walking,
  gait abnormalities and local symptoms like neck pain, limited neck mo- bility, torticollis or head tilt have also been
  described. 2~ We recommend lateral neck radiograph after 5 yr of age and before any surgery or when there are
   symptoms or signs sugges- tive of cord compression.

   IX Early stimulation

  Early stimulation is recommended for all 124 THE INDIAN JOURNAL OF PEDIATRICS 1996; Vol. 63. No. 1 children
   with DS.It should begin from infancy.There is empirical evidence that early intervention has a positive effect.21 As
  the parents are actively involved in these programs, it also helps them to un- derstand the weaknesses and strengths
   of their child, which helps in future planning. We have published a booklet on "Home training of children with mental
   handicap" for use by parents. jects), it gradually lengthens and reaches 1 to 2 years for functions that ordinarily appear
   at about 2-3 years of age. 22 However about 5% of DS children have borderline mental retardation, and there are instances
  of their having written books and having become good artists. We have reported developmental milestones of chidlren
   with Down syndrome which can be useful for counselling.23

   X Prognosis for mental development

   XI Physical growth

  Although newborns with DS may, with exception of the profound hypotonia, appear reasonably normal behaviorally,
  developmental retardation generally becomes obvious during the first several months of life.The attainment of
  developmental landmarks becomes increasingly more delayed as the time goes on.Thus, whereas the average delay
   may be of the order of two months for the very early landmarks (i.e. rolling over, transfer of ob- Linear growth in children
  with DS has been documented to be retarded as compared to normal children.24 In a study in India it was seen that most
  children were below the 10th percentile by one year though the growth velocity of many was within the range of normal
  during the first few months of life.25 Special growth charts should be used to follow up their growth.2S2 6 Table 2 gives
  guidelines which are being TABLE 2. Optimal Management of Down Syndrome 0-1 month Infancy 1-5 years 5-13
  yr Clinical examination Chromosome study Stimulation program Growth assessment Thyroid screen Hearing Vision
  Cervical spine x-ray Electrocardiegram Echocardiogram Psychosociat development & behavioral assessment +
  (or first visit) + (or first visit) + + + + + + + + & every 3 years + First visit On clinical suspicion/EKG abnormality &
  every 3 years + & every 3 years + + q- + + 1996; Vol. 63. No. 1 followed at our Genetics clinic for management of
  children with DS at different ages.

   XII Risk of recurrence

  Women 35 years of age or less who have a child with trisomy have a 1% risk of having another, which is significantly
  greater than the general population.The risk is little increased if any over the usual maternal age dependent
  frequency if the mother at risk is 35 years or older.For translocations inherited from the mother,the risk is about
  10 percent, whereas it is about 4-5 percent when father is the carrier.4 There is no precise information for mosaics.

   XIII Prenatal diagnosis

  Parents who wish to get a prenatal diagnosis have a number of options. They can directly get a fetal karyotype
  by chorionic villus sampling or amniocentesis.Alternatively an initial screening with maternal serum markers- serum
  alpha feto protein, human chorionic gonadotrophin, unconjugated estriol and ultrasonography can be carried out
  and if the risk of bearing a DS child is more than 1 : 200, prenatal fetal karyotyping can be offered. Fetal
  ultrasonography helps to detect fetuses who are at high risk for chromosomal abnormalities.Important findings
  which are suggestive of DS are increased nuchal fold thickness (measured over the occiput and not over the spine),
  short femur and humerus length and duodenal atresia.Ultrasound findings help in counselling specially if the
  parents have opted for initial screening with maternal serum markers.Prenatal karyotyping can be done by
  various invasive .procedures.Chorionic villus sampling(CVS)can be carried out THE INDIAN JOURNAL OF
  PEDIATRICS 125 between 10-12 weeks of pregnancy (transcervical or transabdominal).This allows diagnosis
  in the first trimester.The options for the couples who come late or opt for the initial screening with serum markers
  and ultrasonography is karyotyping by amniocentesis (16-18 weeks) or transabdominal CVS, or cordocentesis
  (af- ter 18 weeks).The karyotype results are available within a week with cord blood samples and direct CVS
  preparations. Amniotic fluid cultures take about 10-14 days for the results.The risk of fetal loss after CVS is
  about 3-4% and with cordocentesis it is about 3%.Amniocentesis poses the lowest risk of about 1%,
  but culture technique is cumbersome and takes longer and is not easily available in India.
 
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