Gender differences in psychosocial function and self-reported health status in late-diagnosed autistic adults: results from the FACE-ASD national cohort.

BACKGROUND: While adult outcome in autism spectrum disorder (ASD) is generally measured using socially valued roles, it could also be understood in terms of aspects related to health status - an approach that could inform on potential gender differences. METHODS: We investigated gender differences in two aspects of outcome related to health-status, i.e. general functioning and self-perceived health status, and co-occurring health conditions in a large multi-center sample of autistic adults. Three hundred and eighty-three participants were consecutively recruited from the FondaMental Advanced Centers of Expertise for ASD cohort (a French network of seven expert centers) between 2013 and 2020. Evaluation included a medical interview, standardized scales for autism diagnosis, clinical and functional outcomes, self-perceived health status and verbal ability. Psychosocial function was measured using the Global Assessment of Functioning scale. RESULTS: While autistic women in this study were more likely than men to have socially valued roles, female gender was associated with poorer physical and mental health (e.g. a 7-fold risk for having three or more co-occurring physical health conditions) and a poorer self-perceived health status. Psychosocial function was negatively associated with depression and impairment in social communication. Half of the sample had multiple co-occurring health conditions but more than 70% reported that their visit at the Expert Center was their first contact with mental health services. CONCLUSIONS: To improve objective and subjective aspects of health outcome, gender differences and a wide range of co-occurring health conditions should be taken into account when designing healthcare provision for autistic adults.

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called "idiopathic" West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome.

The sensory experiences of autistic people: A metasynthesis.

LAY ABSTRACT: Sensory atypicalities are very common among autistic people and are integrated in several theories and explanatory models of autism. Qualitative studies have explored these singular sensory experiences from the perspectives of autistic people themselves. This article gathers all these qualitative studies and provides original findings regarding the everyday sensory experience of autistic people, that is, around four dimensions - physical, emotional, relational and social - experienced holistically, as inseparable, and not hierarchically or in terms of cause and effect. Adopting this holistic view could improve the adaptation of the sensory environment in health care facilities and the training of professionals around this specific issue.

Reversal of Cardiac Hypertrophy With a Ketogenic Diet in a Child With Mitochondrial Disease and Hypertrophic Cardiomyopathy.

Mitochondrial diseases are rare metabolic disorders that can cause hypertrophic cardiomyopathy. Herein we describe the case of a 3-year-old girl diagnosed with mitochondrial disease (mutation m.5559A>G in the mitochondrial-tRNATrp gene). Echocardiography showed left ventricular hypertrophy with an enlarged septum (9 mm, z score = 3.26). Antioxidant supplementation associated with a high-fat ketogenic diet was introduced and, as expected, improved neurologic status. In addition, heart parameters improved with normalisation of interventricular septum thickness at 6 years of age (6 mm, z score = 1.05). In this case report, we suggest that a ketogenic diet may improve hypertrophic cardiomyopathy in the context of mitochondrial disease.