Open Access
Table III
Guidelines for healthcare supervision of children through adulthood with WBS.
| From birth to 1 year (infancy) |
|---|
| Examination: Examine clinical features, confirm diagnosis with FISH analysis, routine health checks with baseline evaluation, growth and developmental evaluations using WBS growth charts, baseline cardiac check by a cardiologist with pediatric expertise and experience, analyze feeding difficulties such as gastroesophageal reflux, refusal, disordered suck or swallow, vomiting or symptoms of colic, ophthalmologic check for strabismus, amblyopia or refractive errors, review for inguinal hernia, objective hearing assessment between 6 and 12 months as recurrent otitis media is usually present, blood pressure measurement in both arms annually with careful evaluation of femoral pulses, review of symptoms of constipation and its manage it, pediatric anesthesia consultation in case of surgical intervention is required. |
| Investigations: FISH to confirm clinical diagnosis, serum creatinine level, urinalysis, serum calcium, spot urine test for calcium-creatinine ratio, thyroid screening for newborns, examination of the urinary bladder and kidneys with ultrsonography (USG). |
| Anticipatory Guidance: Organize emotional support for the family from family, friends, clergy, orpublic support groups. Keep a check on increased risk for otitis media, recognize feeding difficulty in transition to textured foods, refer the infant to early childhood intervention program |
| 1–5 years (early childhood) |
| Examination: Annual health check with specific auscultation of chest and abdomen for murmurs or bruits, growth and developmental evaluations using WBS growth charts, annual cardiac check from 1 to 5 years, keep watch for feeding problems such as rectal prolapse and manage constipation with stool softeners when needed, annual hearing and vision check (objective check before 3 years), examination of joints, muscle tone, spasticity, and hyperactive reflexes, blood pressure measurement in both arms annually with careful evaluation of femoral pulses, pediatric anesthesia consultation in case of surgical intervention is required, multidisciplinary approach to assess child development and initiate treatment through early intervention programs (0–3 years) or school based initiatives (>3 years). |
| Investigations: Annual urinalysis, total serum calcium assessment if it was raised at baseline or if symptoms arise, otherwise measure every 2–3 years. Measure urinary calcium-creatinine ratio every 2 years, thyroid function and serum creatinine every 4 years. |
| Anticipatory guidance: Organize emotional support for the family from family, friends, clergy, orpublic support groups. Keep a check on increased risk for otitis media, assess feeding difficulty, initiate therapy as required (physical, speech, language, occupational and sensory integration). Assess for constipation, unexplained fever must be investigated for urinary tract infection. Dialogue with family regarding developmental status of child, admission to early intervention programs and preschool programs. |
| 5–12 years (late childhood) |
| Examination: Annual health check, growth and developmental evaluations using WBS growth charts, annual blood pressure measurement in both arms with careful evaluation of femoral pulses, cardiac evaluation as implied by previous clinical evaluations. When previous evaluations are negative, repeated cardiovascular assessment for arterial stenoses, hypertension must be undertaken at puberty. Ophthalmologic assessment (strabismus and hyperopia), and orthopaedic assessment for joint mobility limitation, spine problems like kyphosis, lordosis, scoliosis, and muscle spasticity. Annual vision and hearing check, pediatric anesthesia consultation in case of surgical intervention is required. Assess child'sschool readiness and devise an individual educational Plan at 5 years. Assess child developmental and psychoeducational status, assess for attention-deficit hyperactivity disorder/anxiety problems formally with a discussion on management. |
| Investigations: Annual urinalysis. Measure serum calcium if raised at baseline or symptoms appear, otherwise evaluate e level every 4 years. Thyroid evaluation every 4 years, urinary calcium-creatinine ratio every 2 years, and serum creatinine level every 2–4 years. |
| Anticipatory guidance: Assess child's school readiness, initiate therapy as required (physical, speech, language occupational and sensory integration). Vocational planning (long term), discuss issues such as sexuality, adolescence and puberty. Attention to diet and exercise since obesity usually affects late childhood. Consider management of anxiety with methods such as counseling, relaxation sessions, and medications. Discuss estate planning for parents of a child with special needs. |
| 13–18 years (adolescence) |
| Examination: Annual health check, blood pressure assessment in both arms, growth and developmental evaluations using WBS growth charts, cardiac assessment as implied by previous clinical evaluations, pediatric anesthesia consultation in case of surgical intervention is required, ophthalmology consultation for hyperopia, orthopaedic assessment for problems such as joint mobility limitation, kyphosis, lordosis, scoliosis and muscle spasticity. Annual assessment for hearing and vision. Evaluation of developmental and psychoeducational status, school placement and resource enhancement, vocational training, social skills education targeting peer interaction. Assess for gastrointestinal abnormalities such as diverticulitis/diverticulosis, cholelithiasis, and chronic constipation in cases with abdominal pain symptoms. Watch for evidence of generalized anxiety disorder. |
| Investigations: Annual urinalysis, thyroid function assessment every 4 years, serum calcium measurement only if symptoms appear, otherwise every 4 years. Urine calcium-creatinine ratio every 2 years, ultrasonography of urinary bladder and kidneys at puberty and every 5 years thereafter, serum creatinine level every 2–4 years. |
| Anticipatory guidance: School placement, continue therapy as required (physical, speech, language occupational and sensory integration), discuss diagnosis with the adolescent and their support groups. Dialogue on sexuality and reproductive matters, support career counseling, reinforce independence, gradually transit to adult care (specifically for cardiac issues). Reinforce daily exercise regime to maintain range of motion, and suggest seeking immediate medical consultation for urinary tract or gastrointestinal issues. Address mental health issues early and seek professional assistance in management. |
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