Table 5.

Frequency of neurologic features reported (n=100) in trichothiodystrophy patients

	Patients No. (%)
Developmental delay or intellectual impairment	96 (86%)
Intellectual impairment	84 (75%)
Developmental delay	76 (68%)
Impaired motor control/psychomotor retardation	41 (37%)
Sociable/outgoing behaviour	17 (15%)
Clinical neurologic findings	84 (75%)
Microcephaly	46 (50%)
Abnormal gait/ataxia	29 (26%)
Audiologic exam performed: normal hearing; sensorineural  hearing loss	20 (18%); 5 (4%)
Abnormal deep tendon reflex: increased; decreased	15 (13%); 1 (1%)
Electroencephalogram: normal; abnormal	14 (13%); 13 (12%)
Abnormal muscle tone: increased; diminished	8 (7%); 11 (10%)
Nerve conduction velocity performed: normal; slow	9 (8%); 3 (3%)
Spasticity	11 (10%)
Intention tremor	8 (7%)
Seizure	7 (6%)
Paresis/plegia	6 (5%)
Dysarthria	5 (4%)
Pyramidal signs	5 (4%)
Peripheral neuropathy	2 (2%)
Neuroimaging abnormality	26 (23%)
Dysmyelination	16 (14%)
Atrophy: cerebellar; cortical	5 (4%); 3 (3%)
Dilated ventricles	4 (4%)
Calcifications	2 (2%)
Other*	5 (4%)
No abnormality reported	12 (11%)
Total	112 (100%)

^*“Other” refers to partial agenesis of corpus callosum (1 patient), slight widening of subarachnoid spaces (1), thin corpus callosum (1), cerebral infarction (1), focal grey matter heterotopia and acute necrotising encephalopathy (1).