Gender and year of birth
Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor bladder and bowel control, slow growth.
Symptoms / Signs
- At birth, no bowel movement, requiring surgery for Hirschsprung disease.
- At 3-6 months, noted development delays (no babbling), poor feeding, allergies (wheat, egg, peanuts, brazil nut and minor reactions to red meat and rice).
- At 9 months - 2 years, growth in weight and head size stopped, and significant developmental delays confirmed (motor and language).
- From age 2 years onward (and still ongoing), behavioural issues (self regulation, aggressivity), vitamin D deficiency
- Speech therapy
Self regulation techniques
- Therapies: speech and occupational therapy, psychologist (for behavior), podiatry
Treatment/evaluations : Surgery, MRI, EEG, medications (Dexamphetamine, Vyvanse, Risperidone)
- Medication, Therapy, Testing
Previously Considered Diagnoses
- TESTED: Angelman syndrome, Fragile X syndrome, Williams Syndrome, Smith-Lemli-Opitz syndrome Suggested : Cerebal dysgenesis ( unconfirmed/untestable, mother's suggestion?)
Genetic Variants of Interest
- Trio exome: - heterozygous variant in TRIO gene Chr5 (GRCH37):g.14394207C>A (glutamine at codon 1427 is replaced by lysine)
Siblings, age & gender
Full brother, 13 years old, born with gastroschisis. Maternal half sister, 6 years old
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at firstname.lastname@example.org
Hi my name is Ned I am 11 years old and very energetic. I love riding my bike and playing sports.
I love helping my family do jobs outside.
I can be cheeky and sometimes naughty, but I’m very loving and affectionate.