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.

Muscle weakness caused by an iodine-deficient diet: investigation of a nutritional myopathy.

Newborn rats raised on a commercially available iodine-deficient diet developed severe muscle weakness, affecting predominantly their proximal hind limbs, that electrophysiologically and morphologically was determined to be myopathic in type. Follow-up dietary studies, utilizing different combinations of vitamins, minerals, casein and elemental iodine, demonstrated that the myopathy was the result of a deficiency of multiple dietary constituents, particularly casein, and was not due to a deficiency of iodine alone. These findings were compared with those observed in earlier investigations of a variety of nutritional myopathies. In the laboratory study of animals raised on experimental diets, it becomes important to consider the possible contributions of multiple dietary deficiencies in the evaluation of any abnormalities found.

Permanent visual impairment in childhood pseudotumor cerebri.

Contrary to statements in the literature, youth does not seem to confer protection from visual loss in pseudotumor cerebri. We examined five children and adolescents who suffered permanent loss of visual acuity or field in association with this disorder. All of them had impairment at the time of diagnosis, and two of the five developed further visual failure while under observation. Children and adolescents with pseudotumor should be kept under the same close ophthalmic surveillance as has been advocated for adults with this disease.

Juvenile diabetes mellitus and optic atrophy.

Nine patients with the syndrome of juvenile diabetes mellitus and optic atrophy exemplified the wide range of manifestations of this syndrome. The disease may occur as a recessively inherited or sporadic disorder and tends to have multi-system involvement. Hearing loss, diabetes insipidus, and evidence of cerebellar or central vesitbulo-ocular dysfunction are common.

Seizures induced by singing and recitation. A unique form of reflex epilepsy in childhood.

A 2-year-old boy of above-average intelligence experienced seizures, manifested by ticlike turning movements of the head, which were induced consistently by his own singing--not by listening to or imagining music. His seizures were also induced by his recitation and by his use of silly or witty language such as punning. The neurologic examination showed only a right-sided Babinski's sign. Seizure activity on an EEG was present in both temporocentral regions, especially on the right side, and was correlated with clinical attacks. A computed tomographic scan was normal. Phenobarbital therapy did not reduce seizure frequency.

The brain in infantile autism: are posterior fossa structures abnormal?

We conducted a detailed MRI study of posterior fossa structures in 13 autistic children, 10 without seizures and three with seizures, and 28 controls, 17 without seizures and 11 with seizures, using computer-assisted planimetry, and measured midsagittal areas of cerebellar vermal lobule group I-V, vermal lobule group VI-VII, the pons, and fourth ventricle height. There were no significant differences between autistic and control subjects in any of the four regions measured, or in the ratio of areas of vermal lobules VI-VII to I-V.

Colpocephaly: clinical, radiologic, and pathogenetic aspects.

Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. It has been considered to result from localized outpocketing of the ventricular cavity due to failure of thickening of overlying brain. Four new cases are presented here, including a child of near-normal development who appears to be the first reported case of colpocephaly with an associated chromosomal anomaly. Our patients support the view that colpocephaly is a disorder of diverse causation that can arise from a variety of degenerative or encephaloclastic insults to the developing brain.