A survey of child neurologists about reproductive healthcare for adolescent women with epilepsy.

OBJECTIVE: To evaluate child neurologists' knowledge, attitudes, and practices regarding sexual and reproductive health (SRH) care for adolescent and young adult women with epilepsy (WWE). METHODS: Child neurologists (including attending physicians, residents, fellows, and advanced practitioners) completed an online survey distributed through subspecialty listservs. We analyzed results using descriptive statistics, chi-square, and logistic regression. RESULTS: Two hundred eight child neurologists completed the survey. Most believed that child neurologists should counsel young WWE on: teratogenesis (99%, n = 206/207), contraception-antiseizure medication interactions (96%, n = 194/202), pregnancy (95%, n = 198/206), contraception (89%, n = 184/206) and folic acid supplementation (70%, n = 144/205). Fewer respondents felt confident with such counseling (teratogenesis: 90%, n = 188/208, drug interactions: 65%, n = 133/208, pregnancy 75%, n = 156/208, contraception: 47-64%, n = 96-134/208, p < 0.05). Ninety-five percent (n = 172/181) reported ever discussing SRH with typically developing young WWE, compared to 78% (n = 141/181) for young WWE with mild intellectual disability (p < 0.01). One third (n = 56/170) who ever discussed SRH did not do so routinely. Respondents correctly answered 87% ±â€¯5% of knowledge questions about SRH for WWE, 80% ±â€¯4% of questions about teratogenic antiseizure medications, and 61% ±â€¯7% of questions about contraception-antiseizure drug interactions. The greatest barrier to SRH care was time constraints (80%, n = 149/186). The majority (64%, n = 119/186) identified solutions including longer appointment times and co-managing SRH care with other specialties. CONCLUSIONS: Findings reveal gaps in SRH care by child neurologists for adolescent and young adult WWE, especially those with mild intellectual disability. Provider-identified barriers and solutions may serve as targets to improve SRH care for this population.

Carnitine Responsive Migraine Headache Syndrome: Case Report and Review of the Literature.

PURPOSE OF REVIEW: To review carnitine's role in migraine and headache, present a case of a patient with intractable chronic migraine refractory to medications but exquisitely responsive to mitochondrial cofactors with a particularly prompt response to L-carnitine supplementation with dose response, and suggest scenarios where L-carnitine could be considered for prophylactic treatment in migraine and intractable headache with migraine features. RECENT FINDINGS: Multiple treatments modalities are used to treat migraine, including nutraceutical therapies. Mitochondrial supplements are often used to treat migraine, based on controlled trials. One of the nutraceutical therapies used in neurological and non-neurological conditions is L-carnitine. A few studies have examined the effect of carnitine in patients with migraine. We present a case of a patient with chronic migraine-like headaches found to have carnitine deficiency whose headaches greatly improved with carnitine supplementation. This case suggests that secondary carnitine deficiency may cause chronic migraine. Energy deficiency states occur with migraine, and replenishment of energy substrates has demonstrated some improvement in migraine. Recent studies suggest that L-carnitine with other mitochondrial cofactors may be migraine preventives. The exact link between carnitine and migraine is unknown. Perhaps carnitine deficiency should be in the differential for refractory migraine. Supplementation with L-carnitine merits exploration as a nutraceutical treatment of chronic migraine. Our case suggests that there may be a dose-dependent response to L-carnitine.

A mechanistic review on GNAO1-associated movement disorder.

Mutations in the GNAO1 gene cause a complex constellation of neurological disorders including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gαo, the α subunit of Go, a member of the Gi/o family of heterotrimeric G protein signal transducers. Go is the most abundant membrane protein in the mammalian central nervous system and plays major roles in synaptic neurotransmission and neurodevelopment. GNAO1 mutations were first reported in early infantile epileptic encephalopathy 17 (EIEE17) but are also associated with a more common syndrome termed neurodevelopmental disorder with involuntary movements (NEDIM). Here we review a mechanistic model in which loss-of-function (LOF) GNAO1 alleles cause epilepsy and gain-of-function (GOF) alleles are primarily associated with movement disorders. We also develop a signaling framework related to cyclic AMP (cAMP), synaptic vesicle release, and neural development and discuss gene mutations perturbing those mechanisms in a range of genetic movement disorders. Finally, we analyze clinical reports of patients carrying GNAO1 mutations with respect to their symptom onset and discuss pharmacological/surgical treatments in the context of our mechanistic model.

Cerebellar mutism and reversible cytotoxic edema in influenza B-associated encephalopathy.

BACKGROUND: Influenza virus-associated neurological complications are rare, though well-documented, especially in children. Encephalopathy and seizures are the most common complications and are typically associated with influenza A infection. Cerebellar mutism has been rarely reported in association with influenza B infection. PATIENT: We describe a 3-year-old boy who presented with cough, fever, altered mental status, seizure, hypotonia, and mutism. He tested positive for influenza B virus. His brain magnetic resonance imaging showed reversible cytotoxic edema limited to the middle cerebellar peduncles and the dentate nuclei. Other viral, vascular, toxic, and metabolic causes were ruled out. CONCLUSION: Our patient represents a case of cerebellar mutism associated with influenza B encephalopathy in which the brain magnetic resonance imaging scan showed reversible cytotoxic edema limited to the middle cerebellar peduncles and the dentate nuclei. This clinicoradiological correlation supports other reports in which the dentate nuclei play a major rule in the pathogenesis of cerebellar mutism.