At this moment, no curative treatment is available.
Recommended evaluations following the initial diagnosis in individuals with THOC6 intellectual disability syndrome include:
• Developmental assessment
• Psychiatric/ Behavioral
• Neurologic including brain MRI to assess for cerebral anomalies including hydrocephalus. Consider EEG if seizure is a concern.
• Gastrointestinal/ Feeding
• Hearing: audiology evaluation
• Eyes: ophthalmologic evaluation to assess for reduced vision, abnormal ocular movement, & strabismus.
• ENT/Mouth: to assess for dental caries, dental malocclusion, & cleft palate / velopharyngeal insufficiency.
• Cardiovascular: echocardiogram
• Genital: external genitalia examination, especially in males to assess for cryptorchidism, hypospadias, or other genital anomalies.
• Endocrine: evaluation of secondary sexual characteristics and menstruation cycles in females, to assess for primary amenorrhea or signs of premature ovarian failure.
• Renal: renal ultrasound, to assess for unilateral renal agenesis, ectopic kidney, or horseshoe kidney.
• Musculoskeletal: to assess for contractures, vertebral defects, & kyphoscoliosis
• Consultation with a clinical geneticist
Recommended periodic surveillance for individuals with THOC6 intellectual disability syndrome include: developmental and behavioral assessment, monitor for signs of hydrocephalus, seizure, change in tone and movement disorder, evaluation of feeding, monitor for hearing loss and vision impairment, monitor dental caries and malocclusion, evaluation of menstruations and renal function.
THOC6