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Tags: Intellectual Disability/di [Diagnosis]

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Sleep disturbance in Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable…

Tags: 0 (Homeodomain Proteins), 0 (Repressor Proteins), 0 (ZEB2 protein human), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Australia, Behavior Rating Scale, characteristics, Child, Child Preschool, Einfeld S, Evans E, Facies, Female, Gene Expression, Hirschsprung Disease/co [Complications], Hirschsprung Disease/di [Diagnosis], Hirschsprung Disease/ge [Genetics], Hirschsprung Disease/pp [Physiopathology], Homeodomain Proteins/ge [Genetics], Humans, Intellectual Disability/co [Complications], Intellectual Disability/di [Diagnosis], Intellectual Disability/ge [Genetics], Intellectual Disability/pp [Physiopathology], Male, Microcephaly/co [Complications], Microcephaly/di [Diagnosis], Microcephaly/ge [Genetics], Microcephaly/pp [Physiopathology], Middle Aged, Mowat D, Mowat-Wilson syndrome, Mutation, Repressor Proteins/ge [Genetics], Severity Of Illness Index, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/co [Complications], Sleep Initiation and Maintenance Disorders/di [Diagnosis], Sleep Initiation and Maintenance Disorders/ge [Genetics], Sleep Initiation and Maintenance Disorders/pp [Physiopathology], Surveys And Questionnaires, Trajectory, Wilson M

Cognitive abilities of patients with Lesch-Nyhan disease

Parents of 42 patients with Lesch-Nyhan disease completed a questionnaire systematizing caregiver observations of the subject's behavior during a wide variety of daily events. Responses were grouped in nine categories reflecting different aspects of…

Tags: 1992, achievement, Adolescent, Adult, alertness, Anderson L T, attempted suicide, Awareness, Behavior Therapy, behavioral, characteristics, Child, Child Preschool, Combined Modality Therapy, Davis S V, Ernst M, Female, Humans, Intellectual Disability/di [Diagnosis], Intellectual Disability/px [Psychology], Intellectual Disability/th [Therapy], Intelligence, Journal of Autism and Developmental Disorders, Language Development Disorders/di [Diagnosis], Language Development Disorders/px [Psychology], Language Development Disorders/th [Therapy], Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/di [Diagnosis], Lesch-Nyhan Syndrome/px [Psychology], Lesch-Nyhan Syndrome/th [Therapy], Male, Neuropsychological Tests, Self-Injurious Behavior/di [Diagnosis], Self-Injurious Behavior/px [Psychology], Self-Injurious Behavior/th [Therapy], Social Adjustment, Social Behavior, Social Environment, Suicide, thinking, Trajectory

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