The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
M R Natowicz - One of the best experts on this subject based on the ideXlab platform.
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late onset tay sachs disease presenting as a childhood stutter
Journal of Neurology Neurosurgery and Psychiatry, 2009Co-Authors: B E Shapiro, M R NatowiczAbstract:Late-onset Tay–Sachs disease (LOTS) is a rare lysosomal storage disorder caused by deficient beta-hexosaminidase A (HEXA) activity. Toxicity results from the accumulation of gangliosides in the central nervous system. In juvenile-onset forms, patients present in childhood with progressive incoordination and/or Developmental Regression; in the “chronic” or “adult-onset” forms, patients present from childhood through early adulthood with weakness, ataxia, dysarthria, spasticity, dystonia, tremor or psychosis. While stutter is reported accompanying other symptoms of LOTS,1 it is not reported as the sole initial manifestation. We report three patients who presented in childhood with Developmental stutter, years before developing other neurological manifestations. Patient 1: This 6-year-old girl, born to non-consanguineous parents of Ashkenazi Jewish and non-Jewish European background, was the product of an uncomplicated pregnancy and delivery. She spoke her first words at 10 months, sat independently and crawled at 7 months, and walked independently at 12.5 months. She developed a marked stutter at 3 years, fine motor delays at 4 years, and subsequent deterioration of gross and fine motor skills, social Regression, cognitive decline and reduced speech output. Neurological exam at age 6 showed poor attention, difficulty following one-step commands, sparse and dysarthric speech, tongue weakness, limb rigidity …
Fernando Kok - One of the best experts on this subject based on the ideXlab platform.
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vitamin b12 deficiency in infancy as a cause of Developmental Regression
Brain & Development, 2005Co-Authors: Erasmo Barbante Casella, Marcelo Valente, Jessie Navarro, Fernando KokAbstract:Vitamin B12 deficiency can cause serious Developmental Regression, hypotonia and cerebral atrophy in infants. We report a 6-month-old infant, with insidious Developmental Regression and brain atrophy showed by CT scan, secondarily to vitamin B12 deficiency. His mother was a strict vegetarian and the patient was exclusively breastfed. The clinical symptoms and the brain CT were normalized after vitamin B12 administration.
Charles A Nelson - One of the best experts on this subject based on the ideXlab platform.
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electroencephalographic spectral power as a marker of cortical function and disease severity in girls with rett syndrome
Journal of Neurodevelopmental Disorders, 2019Co-Authors: Katherine J Roche, Jocelyn Leblanc, April R Levin, Heather M Oleary, Lauren M Baczewski, Charles A NelsonAbstract:Rett syndrome is a neuroDevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a Developmental Regression, and the disorder can lead to cognitive, motor, sensory, and autonomic dysfunction. Understanding the mechanism of Developmental Regression represents a unique challenge when viewed through a neuroscience lens. Are circuits that were previously established erased, and are new ones built to supplant old ones? One way to examine circuit-level changes is with the use of electroencephalography (EEG). Previous studies of the EEG in individuals with Rett syndrome have focused on morphological characteristics, but few have explored spectral power, including power as an index of brain function or disease severity. This study sought to determine if EEG power differs in girls with Rett syndrome and typically developing girls and among girls with Rett syndrome based on various clinical characteristics in order to better understand neural connectivity and cortical organization in individuals with this disorder. Resting state EEG data were acquired from girls with Rett syndrome (n = 57) and typically developing children without Rett syndrome (n = 37). Clinical data were also collected for girls with Rett syndrome. EEG power across several brain regions in numerous frequency bands was then compared between girls with Rett syndrome and typically developing children and power in girls with Rett syndrome was compared based on these clinical measures. 1/ƒ slope was also compared between groups. Girls with Rett syndrome demonstrate significantly lower power in the middle frequency bands across multiple brain regions. Additionally, girls with Rett syndrome that are postRegression demonstrate significantly higher power in the lower frequency delta and theta bands and a significantly more negative slope of the power spectrum. Increased power in these bands, as well as a more negative 1/ƒ slope, trended with lower cognitive assessment scores. Increased power in lower frequency bands is consistent with previous studies demonstrating a “slowing” of the background EEG in Rett syndrome. This increase, particularly in the delta band, could represent abnormal cortical inhibition due to dysfunctional GABAergic signaling and could potentially be used as a marker of severity due to associations with more severe Rett syndrome phenotypes.
Daphna K Dror - One of the best experts on this subject based on the ideXlab platform.
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effect of vitamin b12 deficiency on neurodevelopment in infants current knowledge and possible mechanisms
Nutrition Reviews, 2008Co-Authors: Daphna K Dror, Lindsay H AllenAbstract:Severe vitamin B12 deficiency produces a cluster of neurological symptoms in infants, including irritability, failure to thrive, apathy, anorexia, and Developmental Regression, which respond remarkably rapidly to supplementation. The underlying mechanisms may involve delayed myelination or demyelination of nerves; alteration in the S-adenosylmethionine:S-adenosylhomocysteine ratio; imbalance of neurotrophic and neurotoxic cytokines; and/or accumulation of lactate in brain cells. This review summarizes the current knowledge concerning infantile vitamin B12 deficiency, including a pooled analysis of case studies of infants born to mothers with untreated pernicious anemia or a strict vegetarian lifestyle and a discussion of the mechanisms that may underlie the manifestations of deficiency.
Eric Fombonne - One of the best experts on this subject based on the ideXlab platform.
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beliefs in vaccine as causes of autism among spark cohort caregivers
Vaccine, 2020Co-Authors: Eric Fombonne, Brian J Oroak, Robin P Goinkochel, Leonard J Abbeduto, Gabriella Aberbach, John Acampado, Charles Albright, Michael Alessandri, David G Amaral, Alpha AmatyaAbstract:Abstract Background Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD) in their child may help targeting educational activities and improve adherence to the immunization schedule. Objectives To compare caregivers of children with ASD who agree or disagree that vaccines play an etiological role in autism for 1) socio-demographics characteristics and 2) Developmental and clinical profiles of their children. Methods Data from 16,525 participants with ASD under age 18 were obtained from SPARK, a national research cohort started in 2016. Caregivers completed questionnaires at registration that included questions on beliefs about the etiologic role of childhood immunizations and other factors in ASD. Data were available about family socio-demographic characteristics, first symptoms of autism, Developmental Regression, co-occurring psychiatric disorders, seizures, and current levels of functioning. Results Participants with ASD were 80.4% male with a mean age of 8.1 years (SD = 4.1). Overall, 16.5% of caregivers endorsed immunizations as perceived causes of autism. Compared to caregivers who disagreed with vaccines as a cause for ASD, those who believed in vaccine causation came disproportionately from ethnic minority, less educated, and less wealthy backgrounds. More often their children had experienced Developmental Regression involving language and other skills, were diagnosed earlier, had lost skills during the second year of life, and had worse language, adaptive, and cognitive outcomes. Conclusion One in six caregivers who participate in a national research cohort believe that child immunizations could be a cause of autism in their child. Parent social background (non-White, less educated) and child Developmental features (Regression in second year, poorer language skills, and worse adaptive outcomes) index caregivers who are more likely to harbor these beliefs and could benefit from targeted educational activities.
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early Developmental Regression in autism spectrum disorder evidence from an international multiplex sample
Journal of Autism and Developmental Disorders, 2011Co-Authors: Eric Fombonne, Jeremy R Parr, Ann Le Couteur, Gillian Baird, Michael Rutter, Andrew Pickles, Anthony J BaileyAbstract:The characteristics of early Developmental Regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of Regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself.
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No evidence for a new variant of measles-mumps-rubella-induced autism.
Pediatrics, 2001Co-Authors: Eric Fombonne, Suniti ChakrabartiAbstract:Objective. A link has been postulated between measles-mumps-rubella (MMR) vaccine and a form of autism that is a combination of Developmental Regression and gastrointestinal symptoms that occur shortly after immunization. This hypothesis has involved 3 separate claims: 1) that there is new phenotype of autism involving Regression and gastrointestinal symptoms, 2) that this new variant is responsible for the alleged rise of autism rates, and 3) that this phenotype is associated with biological findings suggestive of the persistence of measles infection. We tested the first of these claims. If this new “autistic enterocolitis” syndrome had some validity, then 1 or several of the following 6 predictions should be supported by empirical data: 1) childhood disintegrative disorder has become more frequent, 2) the mean age of first parental concern for autistic children who are exposed to MMR is closer to the mean immunization age than in children who are not exposed to MMR, 3) Regression in the development of children with autism has become more common in MMR-vaccinated children, 4) the age of onset for autistic children with Regression clusters around the MMR immunization date and is different from that of autistic children without Regression, 5) children with regressive autism have distinct symptom and severity profiles, and 6) regressive autism is associated with gastrointestinal symptoms and/or inflammatory bowel disorder. Methods. Three samples were used. Epidemiologic data on 96 children (95 immunized with MMR at a median age of 13.5 months) who were born between 1992 and 1995 and had a pervasive Developmental disorder diagnosis as reported in a recent UK survey (post-MMR sample) were compared with data from 2 previous clinical samples (1 pre-MMR [ n = 98] and 1 post-MMR [ n = 68]) of autistic patients. All patients were assessed with the standardized Autism Diagnostic Interview (ADI), allowing rigorous comparison of age at first parental concerns and rates of Regression across samples. Reliability was excellent on ADI scores, age of parental concern, and Developmental Regression. Furthermore, data on bowel symptoms and disorders were available in the epidemiologic survey from both pediatric and parental sources, and immunization dates were obtained from computerized records. Results. The prevalence of childhood disintegrative disorder was 0.6/10 000 (95% confidence interval: 0.02–3.6/10 000); this very low rate is consistent with previous estimates and is not suggestive of an increased frequency of this form of pervasive Developmental disorder in samples of children who are immunized with MMR. There was no difference in the mean age at first parental concern between the 2 samples exposed to MMR (19.3 and 19.2 months) and the pre-MMR sample (19.5 months). Thus, MMR immunization was not associated with a shift toward an earlier age for first parental concerns. Similarly, the rate of Developmental Regression reported in the post-MMR sample (15.6%) was not different from that in the pre-MMR sample (18.4%); therefore, there was no suggestion that Regression in the Developmental course of autism had increased in frequency since MMR was introduced. In the epidemiologic sample, the subset of autistic children with Regression had no other Developmental or clinical characteristics, which would have argued for a specific, etiologically distinct phenotype. Parents of autistic children with Developmental Regression detected the first symptoms at a very similar age (19.8 months) to those of autistic children without Regression (19.3 months). Moreover, the mean intervals from MMR immunization to parental recognition of autistic symptoms were comparable in autistic children with or without Regression (248 vs 272 days; not significant). In the epidemiologic sample, gastrointestinal symptoms were reported in 18.8% of children. Constipation was the most common symptom (9.4%), and no inflammatory bowel disorder was reported. Furthermore, there was no association between Developmental Regression and gastrointestinal symptoms (odds ratio: 0.63; 95% confidence interval: 0.06–3.2; not significant), and only 2.1% of the sample experienced both problems, a rate that did not exceed chance expectations. Conclusions. No evidence was found to support a distinct syndrome of MMR-induced autism or of “autistic enterocolitis.” These results add to the recent accumulation of large-scale epidemiologic studies that all failed to support an association between MMR and autism at population level. When combined, the current findings do not argue for changes in current immunization programs and recommendations.