Table 5.

Treatment of Manifestations in Individuals with THOC6 Intellectual Disability Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Hydrocephalus /
Cerebral malformations 		Standard treatment(s) as recommended by neurologist/neurosurgeon
Epilepsy Standardized treatment w/ASMs by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Anal anomalies /
Atresia 		Standard treatment per gastroenterologist &/or surgeon
Hearing Hearing aids may be helpful per otolaryngologist.Community hearing services through early intervention or school district
Abnormal vision /
Strabismus 		Standard treatment(s) per ophthalmologistCommunity vision services through early intervention or school district
Dental caries /
malocclusion 		Standard treatment(s) per dentist
Cardiac malformations Standard treatment(s) per cardiologist
Genital anomalies Standard treatment(s) per urologist
Hypergonadotropic
hypogonadism 		HRT if indicated
Renal malformations Standard treatment(s) per nephrologist
Musculoskeletal
anomalies 2 		Standard treatment(s) per orthopedist
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; HRT = hormone replacement therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

2.

Pes planus, trigger thumb, equinovarus deformity, & congenital hip dislocation

From: THOC6 Intellectual Disability Syndrome

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