InfancyDiagnosis
Infancy and at the time of diagnosis
When the diagnosis of CdLS is considered, a karyotype should be obtained (blood chromosomes should be sent and evaluated), although it will typically be normal. Once the clinical diagnosis has been made, a number of studies and services are recommended:
- Echocardiogram;
- Renal ultrasound;
- Pediatric ophthalmologic evaluation with cycloplegic refraction;
- Hearing evaluation (otoacoustic emissions, or brainstem auditory evoked response if audiology is abnormal);
- An upper GI series to rule out malrotation and reflux – if malrotation is detected, early repair may be indicated;
- Evaluation for gastroesophageal reflux disease (GERD) including pH probe and/or endoscopy, and, if found, treated medically (e.g. prokinetics) or, if that fails, surgically (e.g. Nissen fundoplication, gastrostomy tube);
- Developmental assessment in infancy and continuing every one to three years;
- Early intervention services initiated and continued as long as needs are being addressed or until adulthood;
- Growth assessment using appropriate CdLS growth charts [Kline et al., 1993a].
Treatment with high calorie formulas is often suggested, and may help with weight gain; however, typically, individuals with CdLS appear to grow at their own pace with a high metabolic rate; - Support organization information should be given to the family whenever a diagnosis is made: in United States the CdLS Foundation, phone 1‐800‐753‐2357, fax 1‐860‐676‐8337, Web site www.CdLSusa.org and CdLS World site www.CdLSworld.org for other country involvement.
- Ensure that family has the CdLS Medical Care Card, available from the CdLS Foundation Web site, which would be helpful in an emergency situation (e.g. risk for volvulus);
- Consider available molecular testing if parents are interested in further pregnancies and prenatal diagnosis options. Refer for genetic counseling if contemplating these prospects.
