We report an 8-year-old boy with complex partial seizures due to congenital stroke, treated with ... more We report an 8-year-old boy with complex partial seizures due to congenital stroke, treated with valproate for more than 3 years (the last 2 years were on monotherapy) with no complications during that period except for transient thrombocytopenia. His sister had uncomplicated hepatitis A. One month later, the patient became jaundiced, went into fulminant hepatic failure, and quickly became encephalopathic despite discontinuation of valproate, aggressive supportive therapy, and treatment with carnitine. He then died. He had positive hepatitis A IgM; other causes for acute hepatitis were ruled out. Liver pathology revealed distended hepatocytes with cholestasis and microvesicular changes. We could find in the literature two other articles on four cases who developed liver failure with hepatitis A while on valproate. All those cases, however, recovered. In our patient a usually benign disease became deadly, probably because of the concomitant use of a hepatotoxic medication. Immunizing, with hepatitis A vaccine, all children on valproate therapy who are living in, or traveling to, endemic areas should be considered and is probably advisable. ( J Child Neurol 2000;15:135-136).
We report on four children of both sexes from a highly inbred family with hypotonia, spastic dipl... more We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.
ObjectiveTo develop a clinically valid interactive level 2 screening assessment for autism spectr... more ObjectiveTo develop a clinically valid interactive level 2 screening assessment for autism spectrum disorders (ASD) in toddlers that is brief, easily administered, and scored by clinicians.Study designWe describe the development, training, standardization, and validation of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) with ASD-specific diagnostic instruments. The RITA-T can be administered and scored in 10 minutes. We studied the validity of the RITA-T to distinguish between toddlers with ASD from toddlers with developmental delay (DD)/non-ASD in an early childhood clinic. We also evaluated the test’s performance in toddlers with no developmental concerns. We identified a cutoff score based on sensitivity, specificity, and positive predictive value of the RITA-T that best differentiates between ASD and DD/non-ASD.ResultsA total of 61 toddlers were enrolled. RITA-T scores were correlated with ASD-specific diagnostic tools (r = 0.79; P < .01) and ASD clinical diagnoses (r = 0.77; P < .01). Mean scores were significantly different in subjects with ASD, those with DD/non-ASD, and those with no developmental concerns (20.8 vs 13 vs 10.6, respectively; P < .0001). At a cutoff score of >14 , the RITA-T had a sensitivity of 1.00, specificity of 0.84, and positive predictive value of 0.88 for identifying ASD risk in a high-risk group.ConclusionThe RITA-T is a promising new level 2 interactive screening tool for improving the early identification of ASD in toddlers in general pediatric and early intervention settings and allowing access to treatment.
Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a ... more Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a paucity of data on the prevalence of ASD in low- and middle-income countries (LMIC), but early identification may be further delayed in those communities. In this paper, recent studies on strategies for the early detection of ASD, and the prevalence of ASD in LMIC are reviewed. The limitations that can arise in the early identification of ASD in LMIC communities are discussed, and screening tools and strategies that can be helpful are identified. The goal is to recommend models that are culturally appropriate and scientifically valid, easily integrated within community settings while strengthening community systems and reducing disparities in the early identification of ASD. Starting locally by simplifying and demystifying the ASD identification process and building community connections will inform global researchers and policymakers while making a difference in the lives of the childre...
The objectives of this study are to evaluate the employee benefits parents of children with autis... more The objectives of this study are to evaluate the employee benefits parents of children with autism spectrum disorders have, how benefits are used, work change, and job satisfaction. We conducted a cross-sectional mailed survey study of 435 families with children with autism spectrum disorders residing in the United States. We received 161 surveys for a response rate of 37%. Families reported using the following benefits: 39% paid family leave, 19% unpaid family leave, 91% flexible work arrangements, and 86% telecommuting. Of respondents, 43% reported stopping work, cutting down on hours worked, or changing jobs because of their child’s condition. Having paid family leave was a positive predictor for job satisfaction. Parents of children with autism spectrum disorders have an interest and need for alternative work arrangements.
We report an 8-year-old boy with complex partial seizures due to congenital stroke, treated with ... more We report an 8-year-old boy with complex partial seizures due to congenital stroke, treated with valproate for more than 3 years (the last 2 years were on monotherapy) with no complications during that period except for transient thrombocytopenia. His sister had uncomplicated hepatitis A. One month later, the patient became jaundiced, went into fulminant hepatic failure, and quickly became encephalopathic despite discontinuation of valproate, aggressive supportive therapy, and treatment with carnitine. He then died. He had positive hepatitis A IgM; other causes for acute hepatitis were ruled out. Liver pathology revealed distended hepatocytes with cholestasis and microvesicular changes. We could find in the literature two other articles on four cases who developed liver failure with hepatitis A while on valproate. All those cases, however, recovered. In our patient a usually benign disease became deadly, probably because of the concomitant use of a hepatotoxic medication. Immunizing, with hepatitis A vaccine, all children on valproate therapy who are living in, or traveling to, endemic areas should be considered and is probably advisable. ( J Child Neurol 2000;15:135-136).
We report on four children of both sexes from a highly inbred family with hypotonia, spastic dipl... more We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.
ObjectiveTo develop a clinically valid interactive level 2 screening assessment for autism spectr... more ObjectiveTo develop a clinically valid interactive level 2 screening assessment for autism spectrum disorders (ASD) in toddlers that is brief, easily administered, and scored by clinicians.Study designWe describe the development, training, standardization, and validation of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) with ASD-specific diagnostic instruments. The RITA-T can be administered and scored in 10 minutes. We studied the validity of the RITA-T to distinguish between toddlers with ASD from toddlers with developmental delay (DD)/non-ASD in an early childhood clinic. We also evaluated the test’s performance in toddlers with no developmental concerns. We identified a cutoff score based on sensitivity, specificity, and positive predictive value of the RITA-T that best differentiates between ASD and DD/non-ASD.ResultsA total of 61 toddlers were enrolled. RITA-T scores were correlated with ASD-specific diagnostic tools (r = 0.79; P < .01) and ASD clinical diagnoses (r = 0.77; P < .01). Mean scores were significantly different in subjects with ASD, those with DD/non-ASD, and those with no developmental concerns (20.8 vs 13 vs 10.6, respectively; P < .0001). At a cutoff score of >14 , the RITA-T had a sensitivity of 1.00, specificity of 0.84, and positive predictive value of 0.88 for identifying ASD risk in a high-risk group.ConclusionThe RITA-T is a promising new level 2 interactive screening tool for improving the early identification of ASD in toddlers in general pediatric and early intervention settings and allowing access to treatment.
Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a ... more Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a paucity of data on the prevalence of ASD in low- and middle-income countries (LMIC), but early identification may be further delayed in those communities. In this paper, recent studies on strategies for the early detection of ASD, and the prevalence of ASD in LMIC are reviewed. The limitations that can arise in the early identification of ASD in LMIC communities are discussed, and screening tools and strategies that can be helpful are identified. The goal is to recommend models that are culturally appropriate and scientifically valid, easily integrated within community settings while strengthening community systems and reducing disparities in the early identification of ASD. Starting locally by simplifying and demystifying the ASD identification process and building community connections will inform global researchers and policymakers while making a difference in the lives of the childre...
The objectives of this study are to evaluate the employee benefits parents of children with autis... more The objectives of this study are to evaluate the employee benefits parents of children with autism spectrum disorders have, how benefits are used, work change, and job satisfaction. We conducted a cross-sectional mailed survey study of 435 families with children with autism spectrum disorders residing in the United States. We received 161 surveys for a response rate of 37%. Families reported using the following benefits: 39% paid family leave, 19% unpaid family leave, 91% flexible work arrangements, and 86% telecommuting. Of respondents, 43% reported stopping work, cutting down on hours worked, or changing jobs because of their child’s condition. Having paid family leave was a positive predictor for job satisfaction. Parents of children with autism spectrum disorders have an interest and need for alternative work arrangements.
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