Consequences of vestibular hypofunction in children with ADHD/DCD.

BACKGROUND: Children with Attention Deficit Hyperactivity Disorder (ADHD) demonstrate a heterogeneous sensorimotor, emotional, and cognitive profile. Comorbid sensorimotor imbalance, anxiety, and spatial disorientation are particularly prevalent among their non-core symptoms. Studies in other populations presented these three comorbid dysfunctions in the context of vestibular hypofunction. OBJECTIVE: To test whether there is a subgroup of children with ADHD who have vestibular hypofunction presenting with concomitant imbalance, anxiety, and spatial disorientation. METHODS: Children with ADHD-only (n = 28), ADHD + Developmental Coordination Disorder (ADHD + DCD; n = 38), and Typical Development (TD; n = 19) were evaluated for vestibular function by the Dynamic Visual Acuity test (DVA-t), balance by the Bruininks-Oseretsky Test of motor proficiency (BOT-2), panic anxiety by the Screen for Child Anxiety Related Emotional Disorders questionnaire-Child version (SCARED-C), and spatial navigation by the Triangular Completion test (TC-t). RESULTS: Children with ADHD vs. TD presented with a high rate of vestibular hypofunction (65 vs. 0 %), imbalance (42 vs. 0 %), panic anxiety (27 vs. 11 %), and spatial disorientation (30 vs. 5 %). Children with ADHD + DCD contributed more frequent and severe vestibular hypofunction and imbalance than children with ADHD-only (74 vs. 54 %; 58 vs. 21 %, respectively). A concomitant presence of imbalance, anxiety, and spatial disorientation was observed in 33 % of children with ADHD, all sharing vestibular hypofunction. CONCLUSIONS: Vestibular hypofunction may be the common pathophysiology of imbalance, anxiety, and spatial disorientation in children. These comorbidities are preferentially present in children with ADHD + DCD rather than ADHD-only, thus likely related to DCD rather than to ADHD disorder. Children with this profile may benefit from a vestibular rehabilitation intervention.

Clinical phenotypes of infantile onset CACNA1A-related disorder.

BACKGROUND: CACNA1A-related disorders present with persistent progressive and non-progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic attacks. These phenotypes overlap and co-exist in the majority of patients. OBJECTIVE: To describe phenotypes in infantile onset CACNA1A-related disorder and to explore intra-familial variations and genotype-phenotype correlations. MATERIAL AND METHODS: This study was a multicenter international collaboration. A retrospective chart review of CACNA1A patients was performed. Clinical, radiological, and genetic data were collected and analyzed in 47 patients with infantile-onset disorder. RESULTS: Paroxysmal non-epileptic events (PNEE) were observed in 68% of infants, with paroxysmal tonic upward gaze (PTU) noticed in 47% of infants. Congenital cerebellar ataxia (CCA) was diagnosed in 51% of patients including four patients with developmental delay and only one neurological sign. PNEEs were found in 63% of patients at follow-up, with episodic ataxia (EA) in 40% of the sample. Cerebellar ataxia was found in 58% of the patients at follow-up. Four patients had epilepsy in infancy and nine in childhood. Seven infants had febrile convulsions, three of which developed epilepsy later; all three patients had CCA. Cognitive difficulties were demonstrated in 70% of the children. Cerebellar atrophy was found in only one infant but was depicted in 64% of MRIs after age two. CONCLUSIONS: Nearly all of the infants had CCA, PNEE or both. Cognitive difficulties were frequent and appeared to be associated with CCA. Epilepsy was more frequent after age two. Febrile convulsions in association with CCA may indicate risk of epilepsy in later childhood. Brain MRI was normal in infancy. There were no genotype-phenotype correlations found.

Long-lasting sleep patterns of adult patients with minor traumatic brain injury (mTBI) and non-mTBI subjects.

BACKGROUND: Sleep disturbance is a common subjective complaint of minor traumatic brain-injured (mTBI) patients, but little is known about the characteristics of sleep disturbance in adults years after the injury. METHODS: Polysomnographic (PSG) and multiple sleep latency test (MSLT) records of 26 mTBI adult patients with normal brain computerized tomography and negative encephalographic studies, no past history of CNS pathology, no premorbid or present major psychiatric diagnosis, and no sleep apnea syndrome were compared to a matched group of apparently healthy individuals (controls). RESULTS: Sleep patterns were disturbed in the mTBI patients. Their sleep architecture was altered, with significantly higher light-sleep non-rapid eye movement (NREM) stage 2 scores compared to controls (54.5+/-13.4% vs. 46.6+/-10.4%, respectively, p=0.03) and significantly lower REM sleep scores (21.2+/-8.4% vs. 25.4+/-4.5%, respectively, p=0.05). The MSLT findings documented significant excessive daytime episodes of falling asleep. CONCLUSIONS: Sleep disturbances of adult patients with chronic mTBI may manifest characteristic alterations in both timing and architecture of their sleep patterns. Sleep lab evaluations may help identify subgroups of mTBI patients who would probably benefit from treatment.