Cornish et al. (2008, this issue) provide an excellent review of Fragile X a common but very complex cause of intellectual disability. They report on a cohort of such males of normal intelligence quotient (IQ) and socioeconomic status (SES), but who have deficits in selective attention and growing impairment in response inhibition. This paper has theoretical views for our models of the mind and...

Patients with 22q11 deletion syndrome (22q11DS) have a high prevalence of psychiatric disorders and intellectual disability. At present the neurobiology underlying psychopathology in 22q11DS is still not understood. In the present study, we analyzed urinary serotonergic, dopaminergic and noradrenergic markers in 67 adults with 22q11DS. Levels of serotonin and the catecholamine metabolite homova...

HAX1 deficiency has recently been identified as a cause of severe congenital neutropenia (SCN), but little is known about the phenotype. We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. Notably, the patient has been complicated by epilepsy and severe delay of motor, cognitive, and intellectual development; each developmental quotient ...

We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Rave...

AIM The aim of the study was to define the intellectual profile of Polish children suffering from autism. Our study was based on the results of previous research, mostly conducted in English-speaking countries. Although these earlier studies documented the intellectual profile of an autistic child, they also identified some discrepancies. Therefore, we decided to complement the discussion on au...

PURPOSE Delayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH. METHODS We retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined...

Sensory, in particular visual processing is recognized as often perturbed in individuals with Autism Spectrum Disorder (ASD). However, in terms of the literature pertaining to visual processing, individuals in the normal intelligence range (IQ = 90-110) and above, are more frequently represented in study samples than individuals who score below normal in the borderline intellectual disability (...

OBJECTIVE This study investigated the relationship between mental retardation and lifetime events in patients with Duchenne muscular dystrophy (DMD). METHODS The data on mental retardation and ages of lifetime events (first walking, loss of ambulation, introductions of ventilator support and tube nutrition and death) were collected retrospectively, and the relationships between the factors we...

The bibliography includes a lot of definitions of a mental handicap that is also called a mental deficiency or oligophrenia. At the present stage those definitions which are multi-aspect seem to be the most valuable. Lewicki gives the similar one in which “oligophrenia means a congenital or early acquired handicap or retardation of physical development, which often leads to disorders of social ...