Epilepsy or a Seizure Disorder? Parental Knowledge and Misconceptions About Terminology.

OBJECTIVE: To assess primary caregiver understanding of the term epilepsy. STUDY DESIGN: A cross-sectional telephone survey evaluated understanding of the term epilepsy among primary caregivers of children diagnosed with epilepsy at an urban referral center during a 24-month period. Three measures of primary caregiver understanding were used: (1) identifying if their child had a seizure disorder, epilepsy, or both; (2) providing an open-ended definition of epilepsy; and (3) selecting from a multiple-choice definition of epilepsy. Caregivers with 3 correct answers were assigned the greatest knowledge score. Associations with possible predictor variables were analyzed. RESULTS: Caregivers for 75 of 116 eligible patients were contacted successfully. Of those, 55 of 75 met eligibility criteria; 45 of the eligible caregivers completed the survey. Twenty-six of 45 caregivers (58%) identified that their child had both a seizure disorder and epilepsy, 5 of 45 (11%) provided a correct open-ended definition of epilepsy, and 16 of 45 (36%) selected the correct multiple-choice definition. Fifteen caregivers (33%) had no correct answers. Seventeen (38%) answered 1, 9 (20%) answered 2, and 4 (9%) answered all 3 measures correctly. Caregivers with greater self-rated understanding had greater epilepsy knowledge scores (P = .008). Having a child neurologist as the first person to discuss the diagnosis with the caregiver also predicted a greater epilepsy knowledge score (P = .04). CONCLUSIONS: Most primary caregivers of children with epilepsy have a poor understanding of the term epilepsy. Changes are needed in how we educate caregivers about the meaning of this term.

Neuroimaging experience in pediatric Horner syndrome.

BACKGROUND: Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. OBJECTIVE: To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. MATERIALS AND METHODS: We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. RESULTS: We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. CONCLUSION: There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically.

"Your Child Has Cerebral Palsy": Parental Understanding and Misconceptions.

IMPORTANCE: Caregivers of children with cerebral palsy can best help their child if they understand the disorder and the correct terminology. OBJECTIVE: To assess caregiver understanding of cerebral palsy. DESIGN: This was a cross-sectional study from a large tertiary medical center in Boston, to assess understanding of the term cerebral palsy by primary caregivers of children and adolescents with cerebral palsy. All cases were obtained from hospital electronic medical records. Telephone surveys were conducted. Caregiver understanding of cerebral palsy was assessed by open-ended responses (50%) and success in answering true/false questions about cerebral palsy (50%). PARTICIPANTS: Primary caregivers of children 18 years and younger with cerebral palsy. RESULTS: Thirty-three percent of caregivers denied ever being told that their child had cerebral palsy. Most caregivers identified cerebral palsy as a brain problem (79%), lifelong condition (73%), often caused by a perinatal (60%) or gestational (40%) insult. Fifty-two percent knew that cerebral palsy was nonprogressive. Sixty-two percent of caregivers believed they had a good, very good, or excellent understanding of cerebral palsy, whereas the investigators found 69% of caregivers had a good, very good, or excellent understanding of cerebral palsy (P = .006). Most caregivers rated very good or excellent the setting where cerebral palsy was discussed (58%), the explanations provided (55%), and the amount of time spent (45%), yet using a Pearson correlation coefficient, most important was the time spent (r = 0.53). CONCLUSIONS: Following discussion with their child's physician, most primary caregivers of children with cerebral palsy have a good, very good, or excellent understanding of cerebral palsy. Most critical to a good understanding of cerebral palsy was the time spent in explaining the diagnosis.

Developmental correlates of head circumference at birth and two years in a cohort of extremely low gestational age newborns.

OBJECTIVES: To evaluate the developmental correlates of microcephaly evident at birth and at 2 years in a cohort born at extremely low gestational age. METHODS: We assessed development and motor function at 2 years of 958 children born before the 28th week of gestation, comparing those who had microcephaly at birth or 2 years with children with normal head circumference while considering the contribution of neonatal cranial ultrasound lesions. RESULTS: A total of 11% of infants in our sample had microcephaly at 2 years. Microcephaly at 2 years, but not at birth, predicts severe motor and cognitive impairments at 2 years. A total of 71% of children with congenital microcephaly had a normal head circumference at 2 years and had neurodevelopmental outcomes comparable with those with normal head circumference at birth and 2 years. Among children with microcephaly at 2 years, more than half had a Mental Developmental Index <70, and nearly a third had cerebral palsy. The risks were increased if the child also had cerebral white matter damage on a cranial ultrasound scan obtained 2 years previously. CONCLUSION: Among extremely low gestational age newborns, microcephaly at 2 years, but not at birth, is associated with motor and cognitive impairment at age 2.

Formation and Growth of the Child Neurology Society.

The Child Neurology Society, founded in 1972, has developed into a strong and vibrant voice for professionals who care for children with a wide variety of neurological disorders. In this article, we describe its beginnings, growth, and how the Society has established robust relationships with many professional societies, and most importantly, the National Institute of Neurological Disorders and Stroke, in fostering research, education, and training for those in the field. The Child Neurology Society was also instrumental in helping to establish the Professors of Child Neurology and the Child Neurology Foundation. In addition, the Child Neurology Society, collaborating with key partner organizations such as the American Academy of Neurology and American Academy of Pediatrics, supports legislative efforts to improve the lives of children with neurological disorders and their families.

Association of Prenatal Ultrasonography and Autism Spectrum Disorder.

Importance: The prevalence of autism spectrum disorder (ASD) has been increasing rapidly, with current estimates of 1 in 68 children affected. Simultaneously, use of prenatal ultrasonography has increased substantially, with limited investigation into its safety and effects on brain development. Animal studies have demonstrated that prenatal ultrasonography can adversely affect neuronal migration. Objective: To quantify prenatal ultrasound exposure by the frequency, timing, duration, and strength of ultrasonographic scans in children with later ASD, developmental delay, and typical development. Design, Setting, and Participants: This case-control study included 107 patients with ASD, 104 control individuals with developmental delay, and 209 controls with typical development. Participants were identified from medical records based on prenatal care and delivery at Boston Medical Center, a diverse, academic, safety-net medical center, from July 1, 2006, through December 31, 2014, with a gestational age at birth of at least 37 weeks. Data were analyzed from May 1, 2015, through November 30, 2017. Exposures: Ultrasonographic exposure was quantified by the number and timing of scans, duration of exposure, mean strength (depth, frame rate, mechanical index, and thermal index), and time of Doppler and 3- and 4-dimensional imaging. Main Outcomes and Measures: Among participants with ASD and controls with developmental delay and typical development, ultrasound exposure was quantified and compared per trimester and for the entire pregnancy, with adjustment for infant sex, gestational age at birth, and maternal age. Results: A total of 420 participants were included in the study (328 boys [78.1%] and 92 girls [21.9%]; mean age as of January 1, 2016, 6.6 years; 95% CI, 6.5-6.8 years). The ASD group received a mean of 5.9 scans (95% CI, 5.2-6.6), which was not significantly different from the 6.1 scans (95% CI, 5.4-6.8) in the developmental delay group or the 6.3 scans (95% CI, 5.8-6.8) in the typical development group. Compared with the typical development group, the ASD group had shorter duration of ultrasound exposure during the first (290.4 seconds [95% CI, 212.8-368.0 seconds] vs 406.4 seconds [95% CI, 349.5-463.3 seconds]) and second (1687.6 seconds [95% CI, 1493.8-1881.4 seconds] vs 2011.0 seconds [95% CI, 1868.9-2153.1 seconds]) trimesters but no difference in the number of scans. The ASD group had greater mean depth of ultrasonographic penetration than the developmental delay group in the first trimester (12.5 cm [95% CI, 12.0-13.0 cm] vs 11.6 cm [95% CI, 11.1-12.1 cm]). The ASD group had greater mean depth than the typical development group during the first (12.5 cm [95% CI, 12.0-13.0 cm] vs 11.6 cm [95% CI, 11.3-12.0 cm]) and the second (12.9 cm [95% CI, 12.6-13.3 cm] vs 12.5 cm [95% CI, 12.2-12.7 cm]) trimesters. Conclusions and Relevance: This study found significantly greater mean depth of ultrasonographic penetration in the ASD group compared with the developmental delay group in the first trimester and compared with the typical development group in the first and second trimesters. Further research is needed to determine whether other variables of ultrasound exposure also have adverse effects on the developing fetus.

Developmental Coordination Disorder Plus: A Diagnosis by Exclusion?

CASE: Cayden is a 6.3-year-old boy who you have been following in our practice since birth. He was born at 35.5 weeks at 6 pounds 4 ounces following a fraternal twin gestation. Both children were "on target" with their milestones, but Cayden did not seem to progress as quickly as his sister. He did not initiate play with his sister when they were toddlers and Cayden was the "shy" one.

Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type.

Krabbe disease is a rare, recessively inherited degenerative disorder of myelin, caused by a deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase. Ninety-five percent of cases begin in early infancy, typically presenting with irritability, hypertonicity, tonic spasms, visual loss with optic atrophy, and occasionally seizures. In 5% of cases, symptoms begin late, between 15 months and 10 years, usually presenting with spastic paralyses, cerebellar ataxia, visual failure, and peripheral neuropathy. Seizures occasionally develop months to years after symptom onset. In a review of 50 such cases from the world literature, in only two did seizures signal the onset. This report describes an 18-month-old male with late-onset Krabbe disease who is the first such reported patient presenting with myoclonic seizures, an epileptic encephalopathy normally thought to reflect gray matter disease.

The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?

Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis cases are associated with CACNA1A mutations. The authors sought to determine the frequency of CACNA1A mutations in benign paroxysmal torticollis by testing 8 children and their parents and by searching the literature for benign paroxysmal torticollis cases with accompanying CACNA1A mutations or other disorders linked to the same gene. In our 8 benign paroxysmal torticollis cases, the authors found 3 different polymorphisms, but no pathogenic mutations. By contrast, in the literature, the authors found 4 benign paroxysmal torticollis cases with CACNA1A mutations, 3 with accompanying family histories of 1 or more of familial hemiplegic migraine, episodic ataxia, and paroxysmal tonic upgaze. Thus, CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze.

A 10-Month-Old With Intermittent Hypotonia and Paralysis.

A 10-month-old boy presented with a 1-day history of flaccid quadriplegia and dysconjugate gaze. His history was remarkable for stereotyped episodes of flaccid quadriplegia or hemiplegia, oculomotor abnormalities, and limb or neck posturing, beginning in the first days of life and becoming more frequent and more prolonged over time. The patient was healthy and developmentally normal between episodes. Results of extensive laboratory evaluations, including EEG and brain imaging studies, were negative. The patient's history, diagnostic evaluation, and final diagnosis are reviewed. This case illustrates the importance of a fundamental understanding of neurologic localization in pediatric care and a focused diagnostic approach to an infant with paroxysmal neurologic signs.

Evaluation of the child who convulses with fever.

Febrile seizures result from age-dependent hyperexcitability of the brain that is induced by fever. Although there are important genetic influences that render a febrile child more likely to develop seizures, it is the fever per se that causes the seizure. Of primary importance in the diagnostic assessment of such children are efforts directed at finding the cause of the fever. Once found, the cause should be treated specifically, e.g. antibacterials for otitis media, and/or symptomatically, e.g. antipyretics for viral pharyngitis. It is essential to exclude underlying meningitis in all children with febrile seizures, either clinically or, if any doubt remains, by lumbar puncture. In as many as one child in six with meningitis, seizures are the presenting sign, and in one-third of these patients, meningeal signs and symptoms may be lacking. The great majority of such cases of meningitis are bacterial in origin, and delay in diagnosis can result in serious neurologic morbidity, and even death.In the child who convulses with fever, it is always important to consider that something in addition to the fever has caused the child to have a seizure. Infection that has gone unnoticed, such as meningitis or encephalitis, as well as a systemic illness, head trauma, intoxication, electrolyte imbalance, low blood sugar, or a phakomatoses, can cause seizures. One must also consider the possibility that the child with a febrile seizure has epilepsy, and that fever has simply triggered a seizure recurrence in a child who also experiences unprovoked seizures.Thus, based on the specifics of each case, the diagnostic evaluation of the child with a febrile seizure can be very limited or moderately comprehensive. Imaging studies are necessary only in selected cases. The electroencephalogram is of limited value. The primary concern is always the need to exclude meningitis. Therefore, a lumbar puncture should be carried out, except in those cases where the possibility of CNS infection seems truly remote.

A negative cranial computed tomographic scan is not adequate to support a diagnosis of pseudotumor cerebri.

A 10-year-old boy with daily headache for 1 month and intermittent diplopia for 1 week was found to have a unilateral partial abducens palsy and bilateral papilledema; otherwise, his neurologic examination showed no abnormalities. A cranial computed tomographic (CT) scan was normal. Lumbar puncture disclosed a markedly elevated opening pressure of > 550 mm of cerebrospinal fluid with normal cerebrospinal fluid. Medical therapy with acetazolamide for presumed pseudotumor cerebri was begun. Magnetic resonance imaging (MRI) of the brain, done several days later because of continuing symptoms, unexpectedly showed multiple hyperintensities of cerebral white matter on T2-weighted and fluid-attenuated inversion recovery images. Despite high-dose intravenous methylprednisolone for possible demyelinating disease, he failed to improve. A left temporal brain biopsy followed and disclosed an anaplastic oligodendroglioma. In a patient with features indicating pseudotumor cerebri, a negative cranial CT scan is not adequate to rule out underlying pathology; thus, MRI of the brain should probably always be performed. A revised definition of pseudotumor cerebri could better include "normal MRI of the brain" rather than "normal neuroimaging."

Do partial seizures predict an increased risk of seizure recurrence after antiepilepsy drugs are withdrawn?

Most children who are seizure free on antiepilepsy drugs for 2 or more years remain seizure free when taken off antiepilepsy drugs. We studied 27 children with well-controlled epilepsy in whom seizures unexpectedly recurred after antiepilepsy drug withdrawal. Seizures were focal in 20 of 27 cases (74%). In 11 of the 20 cases (55%), there was also a late onset of seizures (after 2 years) and an abnormal electroencephalogram (EEG) at antiepilepsy drug withdrawal. Of the remaining 9 patients with focal seizures, 3 (15%) had only a late seizure onset, 3 (15%) had only an abnormal EEG, and 3 (15%) had neither a late onset of seizures nor an abnormal EEG. In the 7 patients without focal seizures, 6 of 7 (86%) had a late seizure onset and/or an abnormal EEG. Our study suggests that partial seizures can be the most important predictor of unanticipated seizure recurrence when antiepilepsy drugs are withdrawn, particularly with late onset of seizures and an abnormal EEG at antiepilepsy drug withdrawal. A large, multicenter, prospective study looking at these and other potential risk factors for seizure recurrence is needed.

Burst suppression electroencephalogram pattern in the newborn: predicting the outcome.

A neonatal burst suppression electroencephalogram (EEG) is usually associated with an ominous prognosis. It is controversial whether a reactive burst suppression pattern (ie, a burst suppression pattern that can be interrupted by stimulation) is predictive of a better outcome. We retrospectively studied 22 full-term newborns with burst suppression EEGs to examine their functional outcome. Follow-up (3 to 9 years) was by record review and telephone interview. On the basis of initial EEG pattern and prognosis, three groups were identified post hoc: group 1 (n = 16) had initially nonreactive burst suppression EEGs that remained abnormal; 11 patients died, 4 remained profoundly impaired (nonambulatory, nonverbal), and 1 was moderately impaired (unassisted ambulation, limited speech). Group 2 (n = 3) had initially nonreactive burst suppression EEGs that later improved substantially (within a mean of 7 weeks). At follow-up (3 to 8 1/2 years), each child was waLking (one with braces), talking, and enrolled in special education. Group 3 (n = 3) had reactive burst suppression EEGs initially. At follow-up (ages 3 1/2 to 9 years), each child was walking unassisted and speaking in sentences. Two children in group 3 were of preschool age, and the third was in a special needs program. Although most newborns with nonreactive burst suppression EEGs have a dire neurologic outcome, of those in whom the EEG improves early, the prognosis may be slightly more favorable. Infants with reactive burst suppression EEGs during the acute phase of illness appear to have the best prognosis.

Basilar artery occlusion in children: misleading presentations, "locked-in" state, and diagnostic importance of accompanying vertebral artery occlusion.

Basilar artery occlusion in children is rare. The clinical diagnosis of basilar artery occlusion is often difficult because the initial neurologic findings, most frequently hemiparesis, involuntary movements, or headache, are often transient and can suggest complicated migraine, seizures, or both. We have reviewed 37 previously reported pediatric cases of basilar artery occlusion and present 3 additional ones. In the 40 cases, basilar artery occlusion alone occurred in 22; in the other 18, there was accompanying vertebral artery occlusion. In the cases of pure basilar artery occlusion, the most common causes were trauma and arteritis, but in most such cases, the etiology could not be determined. The cause was found much more often in cases of basilar artery occlusion with accompanying vertebral artery occlusion, with trauma being the most frequent etiology, especially in boys between 6 and 14 years. Of the 37 previously reported pediatric cases of basilar artery occlusion, 7 were "locked in" early in the course (mute, quadriparetic, aware, and communicative with eye movements), as were our 3 cases. In most cases of basilar artery occlusion that are locked in, the basilar artery occlusion involves its midportion, sparing the anterior inferior cerebellar and superior cerebellar arteries.

Torticollis.

Torticollis refers to a twisting of the head and neck caused by a shortened sternocleidomastoid muscle, tipping the head toward the shortened muscle, while rotating the chin in the opposite direction. Torticollis is seen at all ages, from newborns to adults. It can be congenital or postnatally acquired. In this review, we offer a new classification of torticollis, based on its dynamic qualities and pathogenesis. All torticollis can be classified as either nonparoxysmal (nondynamic) or paroxysmal (dynamic). Causes of nonparoxysmal torticollis include congenital muscular; osseous; central nervous system/peripheral nervous system; ocular; and nonmuscular, soft tissue. Causes of paroxysmal torticollis are benign paroxysmal; spasmodic (cervical dystonia); Sandifer syndrome; drugs; increased intracranial pressure; and conversion disorder. The description, epidemiology, clinical presentation, evaluation, treatment, and prognosis of the most clinically significant types of torticollis follow.