Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defect...

Biallelic loss of function IMPA1 causes autosomal recessive intellectual developmental disorder 59 (MRT59, OMIM #617323). MRT59 has been reported to present with significant disability and disruptive behavior, but little is known about the neurocognitive pattern those patients. Thus, aims this study were: (1) assess cognitive profile these patients, (2) evaluate their functional dependence leve...

BACKGROUND Developmental and index offence variables have been implicated strongly in later criminal behaviour and service pathways and this paper investigated attention deficit hyperactivity disorder (ADHD) which, with conduct disorder, has emerged from previous studies on offenders. ADHD and conduct disorder are over-represented among criminal populations when compared to the general populati...

Pallister-Killian syndrome is a sporadic disorder caused by the presence of mosaic tetrasomy of the short arms of chromosome 12. Case reports of children with Pallister-Killian syndrome have described a range of developmental and behavioral outcomes, but no systematic studies of these outcomes exist. The objective of this study was to describe developmental and behavioral characteristics of ind...

ïndividuals with factitious disorder fake illnesses to assume a sick role. they simulate, induce, or aggravate illness, often inflicting painful, deforming, or even life-threatening injury on themselves or those under their care. factitious disorders are diagnosed in about one percent of patients who are seen in psychiatric consultation in general hospitals. ône of the features, that are overre...

Autism spectrum disorder (ASD) is a common neuro-developmental in children who require special oral health care. ASD Children with uncontrolled body movements, impaired social interaction and intellectual disabilities are commonly treated the normal dental clinics. The professionals our region did not cover any previous training about this during their studies they have different experiences de...

Pervasive developmental disorder is characterized by various symptoms that often include self-injurious behavior (SIB). Episodes of SIB occur in the context of high emotional arousal, anger, or fear and may be related to epilepsy. We report the case of a 20-year-old man with pervasive developmental disorder presenting with SIB non-responsive to antipsychotic medication. Positron emission tomogr...

Autism spectrum disorder is characterized by patterns of delay and deviance in the development of social, communicative, and cognitive skills that arise in the first years of life. Although frequently associated with intellectual disability, this condition is distinctive in its course, impact, and treatment. Autism spectrum disorder has a wide range of syndrome expression and its management pre...