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Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Background22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autisticExpand
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Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories
Autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) share clinical and genetic components that have long been recognized. The two disorders co-occur more frequently than wouldExpand
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Epilepsy in autism spectrum disorders
  • R. Canitano
  • Medicine, Psychology
  • European Child & Adolescent Psychiatry
  • 1 February 2007
Epilepsy is quite common in autism spectrum disorders, and it is increasingly recognized as an additional clinical problem that must be dealt with. The rate of comorbidity varies, depending upon theExpand
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Epilepsy, Electroencephalographic Abnormalities, and Regression in Children With Autism
The association of epilepsy and autism is recognized, and it has been reported at a percentage that varies between 8 and 42%, depending on age and diagnostic criteria. One third of autistic childrenExpand
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Study of MECP2 gene in Rett syndrome variants and autistic girls
Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X‐linked severe developmental disorder affecting young girls, as well as for most cases of Preserved SpeechExpand
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Tics and Tourette syndrome in autism spectrum disorders
  • R. Canitano, G. Vivanti
  • Medicine, Psychology
  • Autism : the international journal of research…
  • 1 January 2007
Autism spectrum disorders (ASDs) are more frequently associated with tic disorders than expected by chance. Variable rates of comorbidity have been reported and common genetic and neurobiologicalExpand
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Psychopharmacology in autism: An update
Autism spectrum disorders are characterized by impairment in social reciprocity, disturbances in language and communication, restricted interests and repetitive behaviors of various types, as definedExpand
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Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features
We present here a unique case of a 14‐year‐old female with autism and some features similar to Rett syndrome (RTT). Genetic analysis demonstrated a large deletion of chromosome 2q instead of a MECP2Expand
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Private inherited microdeletion/microduplications: implications in clinical practice.
The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high-resolution technique is also opening novel diagnostic challenges whenExpand
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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized byExpand
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