Management Guidelines
No clinical practice guidelines for TBCK-related neurodevelopmental disorder (TBCK-NDD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with TBCK-NDD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
TBCK-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Constitutional
| Measurement of weight, length/height, head circumference | To assess for growth deficiency
Craniofacial
| Assess for evidence of macroglossia abnormal head shape. | Consider referral to craniofacial clinic.
Neurologic
| Neurologic eval | • To incl brain MRI
Consider EEG if seizures are a concern.
If clinically suspected due to hyporeflexia, EMG/NCS may be considered.
If evidence of profound neuromuscular weakness, consider eval for nocturnal hypoventilation.
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Consider eval for alternative communication device.
Neurobehavioral/
Psychiatric
| Neuropsychiatric eval | For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
Musculoskeletal
| O...
Source: GeneReviews — "TBCK-Related Neurodevelopmental Disorder"
