Obstructive sleep apnea syndrome in adults with down syndrome: Causes and consequences. Is it a "chicken and egg" question?

Individuals with Down syndrome present many clinical characteristics, such as metabolic, endocrine, anatomic and neurologic dysfunctions, that contribute to the physiopathology of obstructive sleep apnea syndrome (OSAS). As a result, sleep apnea prevalence is significantly greater in population with Down syndrome, and may have critical consequences on health and quality of life, such as cardiovascular risks and obesity. This paper compiles a list of specific risk factors of OSAS present in Down syndrome to explain the high prevalence of this sleep disorder. Endocrine, metabolic, and morphologic aspects are discussed, as well as cardiac, autonomic, genetic and lifestyle factors. Thus, the purpose of this review is to present risk factors, consequences and management of OSAS in the population with Down syndrome.

Motor Capacities in Boys with High Functioning Autism: Which Evaluations to Choose?

The difficulties with motor skills in children with autism spectrum disorders (ASD) has become a major focus of interest. Our objectives were to provide an overall profile of motor capacities in children with ASD compared to neurotypically developed children through specific tests, and to identify which motor tests best discriminate children with or without ASD. Twenty-two male children with ASD (ASD-10.7 ± 1.3 years) and twenty controls (CONT-10.0 ± 1.6 years) completed an evaluation with 42 motor tests from European Physical Fitness Test Battery (EUROFIT), the Physical and Neurological Exam for Subtle Signs (PANESS) and the Movement Assessment Battery for Children ( M-ABC). However, it was challenging to design a single global classifier to integrate all these features for effective classification due to the issue of small sample size. To this end, we proposed a hierarchical ensemble classification method to combine multilevel classifiers by gradually integrating a large number of features from different motor assessments. In the ASD group, flexibility, explosive power and strength scores (p < 0.01) were significantly lower compared to the control group. Our results also showed significant difficulties in children with ASD for dexterity and ball skills (p < 0.001). The principal component analysis and agglomerative hierarchical cluster analysis allowed for the classification of children based on motor tests, correctly distinguishing clusters between children with and without motor impairments.

Reduced Cardiorespiratory Capacity in Children with Autism Spectrum Disorders.

Background-Children with autistic spectrum disorders (ASDs) are frequently hampered by motor impairment. It limits them from regularly practicing physical activities and results in a lower physical fitness even though low cardiorespiratory fitness is one of the most important predictors of all-cause mortality. This study aimed to investigate the cardiorespiratory fitness of boys with ASD compared to typically developed children. Methods-forty male children participated. Twenty were control children (CONT-10.0 ± 1.6 years) and 20 were ASD children (ASD-10.7 ± 1.2 years; intellectual quotient > 70). All participants completed an incremental exercise test on a treadmill. An evaluation of motor characteristics by three tests was conducted (muscular strength; explosive power; flexibility). Assessments of daily physical activity were obtained by questionnaires (PAQ-C) and by actigraphy. Results-in the ASD group, aerobic capacity values (VO2peak), effort duration and maximal speed were significantly lower compared to CONT (p < 0.05). Flexibility, explosive power and muscular strength were significantly lower in ASD compared to CONT (p < 0.05). Similarities between all children were observed for physical activity evaluation by actigraphy and with the PAQ-C. Conclusions-children with ASD had lower cardiorespiratory fitness than CONT despite similar physical activity levels. Our results suggested that the difference may be due to motor discrepancies.

[A specialised consultation for children and young adults with trisomy 21]. / Une consultation spécialisée pour l'enfant et le jeune adulte atteints de trisomie 21.

The life expectancy of people with trisomy 21 has increased over recent decades. More than half live over 55 years today, compared to just 9 years in 1929. This progress is thanks to easier access to care and improved medical diagnoses as well as greater physical and psychological stimulation. Continued monitoring remains essential but it becomes less systematic as children grow up, despite the risk of certain complications increasing from puberty. Consultations devoted to trisomy 21 aim to facilitate access to care through an adapted care pathway.

Autonomic Responses to Head-Up Tilt Test in Children with Autism Spectrum Disorders.

Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders often manifested by social and behavioral deficiencies. Autonomic dysfunction is frequently reported in the autistic population but the mechanisms remain largely unknown. We aimed to characterize the cardiac autonomic profile of children with autism during a head-up tilt test. Thirty-nine male children were recruited: 19 controls (9.9 ± 1.6 years) and 20 children with ASD without intellectual disability (10.7 ± 1.2 years). Each child underwent a head-up tilt test on a motorized tilt table. After a 10 min resting period in the supine position, subjects were tilted head-up to 70° on the table for 10 min. Heart rate and blood pressure variabilities were continuously recorded using non-invasive Nexfin monitoring. The head-up tilt test significantly altered heart rate variability (p < 0.001 for both groups) and greater parasympathetic responses were found in the ASD group compared to controls (p < 0.05). In the supine position baroreflex sensitivity was higher in children with ASD than in the controls (p < 0.05) and significantly decreased during the tilt test in the ASD group, but not in controls. Our results showed that children with ASD did not have clinical signs of dysautonomia in response to a head-up tilt test. However, in children with ASD higher parasympathetic responses with the same sympathetic modulations during orthostatic stress suggest parasympathetic dominance in this population.