Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability.
View Article and Find Full Text PDFEur Child Adolesc Psychiatry
January 2010
The objective of this study is to examine the occurrence and characteristic features of obsessive-compulsive behaviours in children and adolescents with Asperger syndrome (AS), with respect to a matched obsessive compulsive disorder group (OCD) and a typically developing control group (CG). For this purpose, 60 subjects (20 OCD; 18 AS; 22 CG), aged 8-15 years, matched for age, gender and IQ were compared. AS and OCD patients were diagnosed according to the DSM-IV-TR criteria.
View Article and Find Full Text PDFWe report on a male child born in Rumania, adopted by an Italian family, and who at 10 years of age was submitted to interferon-alpha 2a therapy for chronic hepatitis B. About 30 days after the beginning of the treatment he developed hypomanic mood and psychogenic seizures. Psychological evaluation showed hyperactivity, distractibility, excessive talkativeness, grandiosity and racing thoughts.
View Article and Find Full Text PDFBackground: Little is known about the Quality of Life (QOL) in parents of children with developmental diseases as compared to other severe neurological or psychiatric disorders. Aims of the present study were: to evaluate QOL in parents of children affected by Pervasive Development Disorder (PDDs), Cerebral Palsy (CP) or Mental Retardation (MR) as compared to a control group (CG); to evaluate QOL of parents of patients with different types of PDDs, namely Autistic Disorder (AD), High Function Autism/Asperger Syndromes (HFA/AS) and Pervasive Developmental Disorder Not Otherwise Specified (PPD-NOS); and to compare the level of impairment in QOL of mothers and fathers within PDDs, CP, MR groups and between AD, HFA/AS, PDD-NOS sub-groups.
Methods: The sample consisted of 212 parents (115 mothers and 97 fathers) of 135 children or adolescents affected by PDDs, MR or CP.
Objective: Aim of our study was to describe the character of General Movements (GMs) in children with Down Syndrome (DS).
Material And Methods: GMs of 23 children with DS and of 30 healthy full-term infants were assessed from birth to 6th month corrected age. A qualitative and a semi-quantitative evaluation of GMs were achieved for each child.