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  1. Article ; Online: Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.

    Morotti, Hadley / Mastel, Sarah / Keller, Kory / Barnard, Rebecca A / Hall, Trevor / O'Roak, Brian J / Fombonne, Eric

    Developmental medicine and child neurology

    2020  Volume 63, Issue 2, Page(s) 226–232

    Abstract: Aim: To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co-occurring attention-deficit/hyperactivity disorder (ADHD) ... ...

    Abstract Aim: To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co-occurring attention-deficit/hyperactivity disorder (ADHD) symptomatology accounts for this increase.
    Method: We searched hospital electronic medical records (EMR) for International Classification of Diseases, 10th Revision NF1 and co-occurring diagnoses codes. We recruited a subsample of 45 children (mean age 9y 2mo; SD 2y 7mo; range 5-12y; 22 males, 23 females) and collected parental reports of autism symptomatology, adaptive behavior, and behavioral problems that were compared to those of 360 age- and sex-matched controls from the Simons Simplex Collection (SSC) with autism spectrum disorder (ASD; SSC-ASD) or typically developing (SSC-TD).
    Results: The EMR search identified 968 children with NF1; 8.8% had ADHD and 2.1% had ASD co-occurring diagnoses. In the subsample, the mean autism scale score for participants with NF1 was below cut-off for significant autism symptoms. Participants with NF1 had significantly more autism and behavioral symptoms than SSC-TD participants, and significantly less than SSC-ASD participants, with one exception: ADHD symptom levels were similar to those of SSC-ASD participants. In analyses that controlled for internalizing, ADHD, and communication scores, the difference in autism symptom levels between participants with NF1 and typically developing controls disappeared almost entirely.
    Interpretation: Our results do not support an association between NF1 and autism, both at the symptom and disorder levels.
    What this paper adds: Diagnoses of attention-deficit/hyperactivity disorder (ADHD) were more common in children with neurofibromatosis type 1 (NF1) than in the general child population. Diagnoses of autism spectrum disorder were no more common in children with NF1 than in the general child population. Increases in autism symptoms did not reach clinically significant thresholds. Co-occurring ADHD symptoms accounted for increased autism questionnaire scores. Adaptive behavior in participants with NF1 showed normal socialization but lower communication proficiency.
    MeSH term(s) Attention Deficit Disorder with Hyperactivity/epidemiology ; Attention Deficit Disorder with Hyperactivity/physiopathology ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/physiopathology ; Child ; Child, Preschool ; Comorbidity ; Electronic Health Records ; Female ; Humans ; Male ; Neurofibromatosis 1/epidemiology
    Language English
    Publishing date 2020-05-14
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14558
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Autism questionnaire scores do not only rise because of autism.

    Fombonne, Eric / Morotti, Hadley / Mastel, Sarah / Keller, Kory / Barnard, Rebecca A / Hall, Trevor / O'Roak, Brian J

    Developmental medicine and child neurology

    2020  Volume 63, Issue 2, Page(s) 235–236

    MeSH term(s) Attention Deficit Disorder with Hyperactivity ; Autistic Disorder/diagnosis ; Child ; Humans ; Neurofibromatosis 1 ; Psychometrics ; Surveys and Questionnaires
    Language English
    Publishing date 2020-10-28
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14725
    Database MEDical Literature Analysis and Retrieval System OnLINE

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