Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.

Background: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8) mice that exhibit stereotyped motor behavior relevant to ASD.

[Anti-MOG antibody spectrum disease with annular-enhancing brain lesions in an immunocompetent child].

We report a rare diagnosis of ring-enhanced brain lesions. We describe a case of a 4-year-old immunocompetent girl presenting with a subacute alteration of her general condition and a walking disorder a few weeks after her return from a trip to Bangladesh. The etiological work-up revealed ring-enhanced brain lesions on magnetic resonance imaging (MRI).

Impact of antenatal exposure to a mixture of persistent organic pollutants on intellectual development.

Objective: Strong experimental evidence exists that several endocrine disrupting chemicals (EDCs) have neurobehavioral toxicity. However, evidence of associations between prenatal exposure and child's cognitive development is inconsistent. Moreover, toxicants are generally analyzed one by one without considering aggregate effects.

Pediatric vascular ring outcomes for surgically repaired unoperated children: a single-center experience.

Background: Vascular rings represent 1% of congenital cardiovascular abnormalities. Phenotypic expression varies from asymptomatic to severe forms related to either oesophageal or tracheal compression. While refinement in prenatal screening led to an increase in fetal diagnosis, optimal management in asymptomatic neonates and infants is currently a matter of debate.

Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Background: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases.