Neurodevelopment in children with albinism.

OBJECTIVES: To evaluate neurologic development in children with albinism. DESIGN: Observational cohort series. PARTICIPANTS AND/OR CONTROLS: Seventy-eight children with albinism, ages 4 to 18 years. METHODS: Parents completed a developmental questionnaire and were interviewed to evaluate their child for attention deficit hyperactivity disorder (ADHD) utilizing Diagnostic and Statistical Manual IV criteria. Sixty-five children underwent neurologic evaluation of balance and fine and gross motor movements. Results were compared with age-appropriate norms. Standardized reading tests were administered to 44 children. Each of 7 neurodevelopmental parameters were compared in terms of binocular best-corrected visual acuity (BCVA) using the nonparametric Wilcoxon rank-sum test. MAIN OUTCOME MEASURES: Seven neurodevelopmental parameters were measured, including onset of walking, tandem gait, repetitive finger movements, sequential finger movements, standing on one foot, hopping on one foot, and throwing a ball overhand. School performance, reading performance, and presence of ADHD were also measured. RESULTS: The BCVA ranged from 20/20 to 20/800, with median of 20/150. A diagnosis of ADHD was present in 21.8% and pervasive developmental disorder was noted in three children (3.8%). No significant developmental delays were noted in the majority of children. Motor development was generally within the normal range and unaffected by severity of visual impairment. Parents reported that 82% performed at grade level in math and 74% at grade level in reading. Only 18% scored below average on standardized reading tests. CONCLUSIONS: Most children with albinism have normal neurologic development despite visual impairment and increased prevalence of ADHD.

Tantrums, Emotion Reactions and Their EEG Correlates in Childhood Benign Rolandic Epilepsy vs. Complex Partial Seizures: Exploratory Observations.

We explored associations between EEG pathophysiology and emotional/behavioral (E/B) problems of children with two types of epilepsy using standard parent questionnaires and two new indicators: tantrums recorded by parents at home and brief, emotion-eliciting situations in the laboratory. Children with Benign Rolandic epilepsy (BRE, N = 6) reportedly had shorter, more angry tantrums from which they recovered quickly. Children with Complex Partial Seizures (CPS, N = 13) had longer, sadder tantrums often followed by bad moods. More generally, BRE correlated with anger and aggression; CPS with sadness and withdrawal. Scores of a composite group of siblings (N = 11) were generally intermediate between the BRE and CPS groups. Across all children, high voltage theta and/or interictal epileptiform discharges (IEDs) correlated with negative emotional reactions. Such EEG abnormalities in left hemisphere correlated with greater social fear, right hemisphere EEG abnormalities with greater anger. Right hemisphere localization in CPS was also associated with parent-reported problems at home. If epilepsy alters neural circuitry thereby increasing negative emotions, additional assessment of anti-epileptic drug treatment of epilepsy-related E/B problems would be warranted.

The prevalence of attention-deficit/hyperactivity disorder among persons with albinism.

Attention-deficit/hyperactivity disorder (ADHD) is a common diagnosis in children and adults. Human albinism is an uncommon genetic condition associated with visual impairment that may affect behavior. To determine if there is a relationship between albinism and ADHD, the prevalence of ADHD was examined among 78 children (age range, 4-18 years) and among 44 adults (age range, 19-79 years) with ocular or oculocutaneous albinism. ADHD was diagnosed in the pediatric population using a combination of Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) criteria, Conners' Parent Rating Scale, and physician observation. Adults were diagnosed using the Utah criteria for ADHD as confirmed by physician history and interview. Seventeen children (22.7% [17 of 75]) (3 children with existing diagnoses of pervasive developmental disorder were identified but were not included in the data analysis) and 3 adults (6.8%) met the criteria for ADHD. The combined hyperactivity and impulsivity subtype of ADHD was most common, accounting for 50% of the diagnoses. Binocular best-corrected visual acuity and genetic type of albinism were not found to correlate with a diagnosis of ADHD. The prevalence of ADHD among children and adults with albinism is more frequent than that reported among the general population and is not related to binocular best-corrected visual acuity.

Objective tinnitus due to essential palatal tremor in a 5-year-old.

A healthy 5-year-old male reported a clicking sound in both ears. Neurologic examination was normal except for an audible clicking noise that could be heard when within 10 cm of either ear and bilateral rapid rhythmic movements of the soft palate. All tests were normal including magnetic resonance imaging brain scan. One year after onset, his objective tinnitus and palatal tremor were no longer present.

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation. RESULTS: The first child responded to intravenous lidocaine with significant reduction in seizure frequency and was successfully transitioned to enteral mexiletine. Mexiletine was subsequently used in a second infant with reduction in seizure frequency. CONCLUSION: Class 1b antiarrhythmic agents, lidocaine and mexiletine, may be useful in infants with medically refractory early infantile epileptic encephalopathy secondary to mutations in SCN2A.

Reading skills in children and adults with albinism: the role of visual impairment.

PURPOSE: To evaluate whether visual impairment in albinism contributes significantly to the acquisition of normal reading skills. METHODS: The authors administered standardized reading tests to 41 children and 18 adults with albinism. The Young Children's Achievement Test was used for children between 4 and 6 years old and the Woodcock-Johnson III was used for children 7 years and older and adults. Parents of children and adult subjects also completed a questionnaire to document developmental, academic, and/or work experiences. The Spearman test was used to evaluate the relationship between binocular best-corrected visual acuity (BCVA) and reading test results. RESULTS: Standardized reading tests in both children and adults with albinism showed a normal distribution of scores. BCVA did not appear to play a significant role in the development of normal reading ability in these individuals who were visually impaired except for a mild correlation of decreased reading fluency on the Woodcock-Johnson III with decreased BCVA (r = 0.287, P = .046). Many young children with albinism had superior reading skills despite having a BCVA of 20/200 or worse (legal blindness). CONCLUSION: This study of cognitively normal children and adults with albinism demonstrates that impaired vision during childhood does not by itself significantly impede a child's ability to acquire normal reading skills. However, the lower reading fluency that occurs in the more visually impaired individuals suggests they would benefit, both in the school system and workplace, with an accommodation involving more time to complete reading tasks.

Reading acuity in albinism: evaluation with MNREAD charts.

INTRODUCTION: The MNREAD reading acuity (RA) charts use continuous-text reading to measure (1) RA, ie, the smallest size of print that the patient can resolve; (2) maximum reading speed (MRS); and (3) critical print size (CPS), ie, the smallest print that the patient can read with maximum speed. This project used the MNREAD charts to evaluate reading performance in children and adults with albinism to determine the smallest print size recommended to facilitate effortless reading. METHODS: A total of 63 subjects with albinism were administered the MNREAD test to determine the critical print size for effortless reading. The subjects read continuous, high-contrast text print until they could no longer discern the words. The MRS and CPS were determined with the MNREAD protocol. Presence or absence of nystagmus and strabismus was recorded. Distance visual acuity was measured with ETDRS charts. RESULTS: The sample included 25 male and 38 female subjects with a median age of 16 years. Median MRS was 150 words per minute. The mean CPS was 0.84 logMAR, notably larger than the mean RA of 0.53 logMAR. CONCLUSIONS: The MNREAD acuity charts can be used to determine functional reading ability and critical print size for effortless reading in individuals with albinism. The amount of enlargement in print size can be used in educational and vocational recommendations to facilitate reading.

Evaluation of vision-specific quality-of-life in albinism.

INTRODUCTION: Human albinism is a genetic condition associated with visual impairment that affects many aspects of daily life. Office measurements of visual acuity do not necessarily reflect daily visual function and health status. This study used the National Eye Institute Visual Function Questionnaire (NEI-VFQ) to determine the effect of albinism-associated ophthalmopathy on quality of life (QOL). METHODS: We administered the NEI-VFQ, which consists of 25 questions about QOL (VFQ-25) and 14 questions about well-being (VFQ-39), to 44 consenting participants with albinism older than the age of 18 years. RESULTS: Nineteen male and 25 female subjects completed the study. Median age was 30.5 years (range, 18-79 years). Mean best-corrected visual acuity was 20/83 (range, 20/20 to 20/320). Forty-eight percent reported that they were currently able to drive with their condition. Participants perceived midscale problems with their general vision (median subscale score 60.0). Visual acuity correlated moderately with overall NEI-VFQ composite scores (r(s) = 0.40, p = 0.01 for VFQ-25 and r(s) = 0.36, p = 0.02 for VFQ-39). Most notable impairment was recorded for distance acuity, vision-specific mental health, and vision-specific role difficulties (VFQ-39 median subscale scores 66.7, 70.0, and 75.0, respectively). Differences by sex were insignificant. Greater ceiling effects were noted for the VFQ-25 than for the VFQ-39. CONCLUSIONS: The NEI-VFQ-39 is a method to evaluate self-reported effects of vision-related QOL in albinism and may be used as a baseline for evaluating outcomes in interventional studies in these patients.