Initial Assessments
These initial assessments should be conducted as soon as the diagnosis is made:
Genetic
- Perform comparative genomic hybridization by array (aCGH) to map the breakpoint
- Karyotype of the parents
Cardiology
56% have major congenital hearth defects (e.g. hypoplastic left heart syndrome, ventricular septal defect)
- Baseline evaluation by a pediatric cardiologist, including an electrocardiogram, echocardiogram, and then relevant follow-up.
Some defects can be detected during the pregnancy ultrasounds.
Bleeding
Almost 100% of the children are born with low blood platelets followed by a persistent anomaly in platelet function. This symptom is also known as Paris-Trousseau syndrome.
Depending on the child, bleeding issues may or may not impact daily life (e.g. severe nose bleeds, easy bruising) but should always be considered in case of accident or surgery.
- Initial assessment by a hematology specialist with follow-up as needed.
- Monthly blood count for the first three months, then once a year.
- Platelet function studies, once platelet count stabilizes.
- Platelet transfusion and/or desmopressin or vasopressin (DDAVP) for bleeding/high-risk procedures.
- Avoidance of medications that interfere with platelets function (e.g. ibuprofen).
- Consider oral contraceptives for females with heavy menstruation.
Additionnally: a baseline MRA (magnetic resonance angiogram) is recommended to assess for the possibility of a brain aneurysm.
Immunology
Many patients suffer from immunodeficiency, to different extends.
- Many patients with JS suffer from a combined immunodeficiency in the presence of recurrent infections. Early detection of immunodeficiency could reduce the frequency and severity of infections. Therefore, an immune assessment should be performed for all patients with JS.
- Immunization schedule has to be determined accordingly.
- 20% suffer from Eczema
Symptomatic treatment of eczema. Referral to dermatology in refractory cases.
IMPORTANT: READ THE FULL IMMUNOLOGY PROTOCOL HERE
Cognitive development
Most have mild to severe developmental delay, especially in expressive language (speech). Seizures occur but are rare.
It's been suggested that the degree of disability is correlative to the size of the deletion.
- Initial neuropsychological assessment and annual review or as needed (e.g. prior to school entry). It must include MRI.
- Age-appropriate vision and hearing testing
- Referral to a pediatric neurologist in case of seizures.
- Early care and cognitive stimulation programs.
- Occupational therapy from an early age.
- Signing language (baby sign language, or adapted sign language like Makaton) can help and involve relatives.
- Music therapy is especially beneficial for language development.
Nose-ear-throat
Hearing impairments occur commonly.
- Age-appropriate formal hearing testing, beginning in infancy
- Imaging study for bifid uvula to rule out midline defects
- Ears-Nose-Throat specialist doctor referral for chronic/recurrent ear infections, sinusitis
Eyes conditions (ophtalmology)
The “lazy eye” is common and can lead to blindness if it is not treated the first year of life.
- Initial assessment by an ophtalmologist at 6 weeks including a fundus study that must be repeated at the age of 3 months, 6 months and every 6 months until the age of three. From there to be done annually.
- Eye-lid ptosis might be addressed chirurgically if impacting vision and/or posture.
Hormones & growth (endrocrinology)
Short stature occurs in most, in whom 50% have growth hormone deficiency.
Hypothyroidism (a condition where the thyroid gland doesn't produce enough thyroid hormones) occurs uncommonly.
- Initial evaluation of growth hormone (IGF-1) and hypothalamus/pituitary and as needed (depending on clinical course).
- The risks and benefits of using human growth hormone replacement therapy are unknown.
- Check TSH level.
- Control and follow-up for premature puberty.
Ongoing Attention
These topics will require attention based on your child's clinical signs:
Behavior
Attention deficit hyperactivity disorder (ADHD) is very common. Autistic behaviors have been observed in some cases.
- Consultation of a pediatrician with experience in behavioral problems and/or pediatric psychologist/psychiatrist.
Gastroenterology (digestive system)
Pyloric stenosis is relatively common (10%).
Chronic constipation with the need for medication is very common.
Feeding problems are common in babies who frequently require the temporary implantation of a gastric tube.
- Order an upper gastrointestintal (GI) / abdominal ultrasound to rule out pyloric stenosis (if clinically indicated).
- Treatment, rectal manometry and/or rectal biopsy in cases of chronic constipation.
- Swallowing studies, if clinically indicated, for failure to thrive.
Genital and urinary systems
10% suffer from problems. 50% of males have not had their testicles descended and usually need surgery.
- Renal assessment with ultrasound.
- Referral to a pediatric urologist for undescended testes or any other anomalies
Orthopedic and motor skills
No specific orthopedic problems.
Gross and fine motor delays are common. Hypotonia is common.
- Evaluation and practice of physical and occupational therapy if necessary.
- Neurophysiotherapy can be considered in case of hypotonia
- Referral to a pediatric orthopedic surgeon as needed
- Hydrotherapy, swimming and other recommended therapies to improve psychomotor skills and muscle tone.
Neurosurgery
One third of patients have trigonocephaly (a type of craniosynostosis caused by premature closure of cranial sutures)
- Early referral to a pediatric neurosurgeon is necessary if there is suspicion of craniosinostosis.
Adressing sleep problems
Sleep problems occur often. Restless sleep is the most common finding; children may also sleep in unusual positions; frequent night awakenings, settling problems, and early waking are additional issues found in research