1. Amaddeo A, De Sanctis L, Arroyo JO, Khirani S, Bahi-Buisson N, Fauroux B. {{Polysomnographic findings in Rett syndrome}}. {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society}. 2018.
INTRODUCTION: Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied. MATERIALS AND METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected. RESULTS: Seventeen RS girls, mean age 9.5 +/- 2.8 years, were included in the study. Mean total sleep time was 366 +/- 102 min. Mean sleep efficiency was reduced (66 +/- 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 +/- 20%) with an arousal index of 7 +/- 6 events/hour. Sleep stages were altered with a normal N1 (2 +/- 3%), a decreased N2 (34 +/- 20%), an increase of N3 (51 +/- 23%) and a decrease of REM sleep (12 +/- 9%). Mean apnea hypopnea index (AHI) was increased at 19 +/- 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively. CONCLUSION: Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline.
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2. Banos JE, Cambra-Badii I, Guardiola E. {{A physician with autism in a TV series}}. {The Lancet Neurology}. 2018; 17(10): 844.
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3. Cantio C, White S, Madsen GF, Bilenberg N, Jepsen JRM. {{Do cognitive deficits persist into adolescence in autism?}}. {Autism research : official journal of the International Society for Autism Research}. 2018.
SEVERAL THEORIES HAVE ATTEMPTED TO CHARACTERISE AUTISM SPECTRUM DISORDERS (ASDS) AT THE COGNITIVE LEVEL, MOST NOTABLY: THEORY OF MIND (TOM), EXECUTIVE FUNCTION (EF), AND A LOCAL PROCESSING BIAS (LB). THE AIM OF THIS STUDY WAS TO INVESTIGATE HOW THESE COGNITIVE FUNCTIONS DEVELOP OVER TIME: The three cognitive domains (ToM, EF, and LB) were examined in a group of high-functioning children (age: 8-12, mean 10.85; IQ: 78-139, mean 105.48) with ASD and a matched group of children with neurotypical development (NTD) (IQ: 75-145, mean: 109.47), and several tasks were used within each domain to ensure the validity of the cognitive measures. Approximately 3 years later (mean age: 14.34), all children and their families were invited to participate in the follow-up (ASD, N = 21; NTD, N = 30). While the understanding of other’s minds does improve from childhood to adolescence, ToM impairment persists in adolescents with ASD relative to their peers. Likewise, a development in EF was observed in the ASD group, while no significant improvement was seen in the NTD group, leading the ASD group to catch up in this domain. We did not detect any group differences at any time point regarding local bias processing (LB). Individual patterns of development were seen, but remarkably, ToM deficits were present in every child with ASD in whom we could detect any cognitive impairment at baseline, and a similar pattern was found at follow-up. These findings indicate that ToM is a persistent cognitive deficit in ASD. LAY SUMMARY: This was the first study to investigate the development of three well-known cognitive functions into adolescence: While the understanding of other’s minds improves from childhood to adolescence, adolescents with ASD are still impaired relative to their peers. The EFs, however, seem to improve to a neurotypical level in ASD as children enter adolescence, while local processing bias seems to differentiate the groups only in early childhood.
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4. Del Bianco T, Ozturk Y, Basadonne I, Mazzoni N, Venuti P. {{The Thorn in the Dyad: A Vision on Parent-Child Relationship in Autism Spectrum Disorder}}. {Europe’s journal of psychology}. 2018; 14(3): 695-709.
Parents and children form a family: their characteristics balance personal and family well-being with healthy levels of stress. Research on parents of children with Autism Spectrum Disorder (ASD) demonstrated that higher levels of parental stress are associated with communication impairment, a core symptom of ASD. The aim of this article is to discuss the connection between non-verbal communication impairment and parental psychological distress, in families with children with ASD. The interaction between atypical communication and distress of parents likely determines a cascade effect on the parent-child dyad; in fact, it decreases the quality and frequency of interactions, preventing the establishment of a healthy parent-child relationship and leading to a series of collateral problems. To this perspective, guiding the parents to reframe their children’s atypical communicative behaviour can relieve parental stress and re-program the interactional routine. This observation stresses the importance of interventions centred on the dyad, especially during early development and soon after the diagnosis, when the communicative impairment may be extremely severe.
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5. Garcia-Villamisar D, Moore D, Garcia-Martinez M. {{Internalizing Symptoms Mediate the Relation Between Acute Pain and Autism in Adults}}. {Journal of autism and developmental disorders}. 2018.
Research on pain in autism spectrum disorder (ASD) is in its infancy, with almost nothing known about how individual differences may predicting pain response in ASD. In the present study, 45 adults (28 male, age 22-48 years) with diagnoses of autism and intellectual delay were observed during vaccination or dental cleaning and their pain behaviours coded and measures of autism symptom severity, anxiety, depression and obsessivity taken. Our findings showed that greater autism severity predicted greater pain response which was partially mediated by anxiety and depression. These data suggest that mental health symptoms are important when considering pain response in autism. Mood must therefore be considered in future research on pain in ASD as well as clinical pain management.
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6. Harrington JW, Emuren L, Restaino K, Schrier Vergano S. {{Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders}}. {Clinical pediatrics}. 2018: 9922818803398.
The purpose of this study was to determine the factors associated with genetic testing in children with autism spectrum disorders (ASDs) and understand parental involvement in the decision to test using survey data of parents of children with ASD. Evaluation by a geneticist was associated with genetic testing by more than 39 times compared to evaluation by a nongeneticist (95% CI = 9.15-168.81). Those offered testing by the physicians were more than 6 times more likely to be tested than those not offered testing (95% CI = 1.66-24.61). Financial concerns, not being offered testing, and lack of awareness were the most consistent reasons for not testing given by participants. A physician’s recommendation for testing and an evaluation by a geneticist were the most important factors associated with genetic testing in children with ASD. Educating primary care physicians and nongenetic specialists can potentially improve genetic testing among children with ASD.
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7. Lamy M, Erickson CA. {{Pharmacological management of behavioral disturbances in children and adolescents with autism spectrum disorders}}. {Current problems in pediatric and adolescent health care}. 2018.
Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric condition that, based on recent CDC estimates affects an estimated 1 in 59 American children. Behavioral treatments remain the mainstay of treatment for the core symptoms of ASD including communication deficits, social interaction deficits and repetitive behavior. However, youth with ASD may also have severe behavioral challenges including irritability, aggression, and hyperactivity. Currently there are only two medications (risperidone and aripiprazole) approved by the FDA for the treatment of irritability associated with ASD in children. Psychiatric comorbidities are common in youth with ASD, affecting up to 70% of affected children and adolescents. Given the burden of co-occurring disorders, medications are often employed to target symptoms such as irritability, anxiety, and hyperactivity. Other common co-occurring conditions including gastrointestinal disorders and sleep disorders may be improved with pharmacologic management. Evidence for the efficacy of many commonly used psychotropic medications in ASD is limited by the lack of large placebo-controlled trials in youth with ASD. This paper reviews the current literature regarding use of medications to address co-occurring conditions in children and adolescents with ASD as well as areas of emerging research.
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8. Loper PL, Jr. {{The Electronic Health Record and Acquired Physician Autism}}. {JAMA pediatrics}. 2018.
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9. McAuliffe T, Thomas Y, Vaz S, Falkmer T, Cordier R. {{The experiences of mothers of children with autism spectrum disorder: Managing family routines and mothers’ health and wellbeing}}. {Australian occupational therapy journal}. 2018.
BACKGROUND/AIM: Families of children with autism spectrum disorder (ASD) use family routines to provide predictability and structure to support occupational engagement of their family members. Mothers assume the major role to orchestrate occupations in constructing family routines, which may impact their health and wellbeing. However, the experiences of mothers in managing family routines and their health and wellbeing have not been the main focus in previous research. Thus, this study explored the experiences of mothers of children with ASD in managing family routines and their perceptions of the impact of family routines on their health and wellbeing. METHODS: An interpretive phenomenological approach was used. Twenty mothers of children with ASD, aged between 28 and 56 years, participated in semi-structured interviews. Data were transcribed verbatim and each transcript was analysed. RESULTS: Five themes that summarise mothers’ perceptions towards health and wellbeing when managing family routines emerged: (i) Keeping on track keeping healthy; (ii) My life is busy, because I do everything for everyone else; (iii) Keeping on track all the time is tiring or frustrating; (iv) Looking after my family by looking after myself; and (v) I am not perfect and it is OK. CONCLUSION: This study highlighted the substantial efforts required in constructing family routines that may be at the cost of mothers’ health and wellbeing. However, mothers may be able to cope with everyday demands in managing family routines by changing their perspectives. By integrating ‘me-time’ activities in family routines, mothers may be able to support their own health and wellbeing. Mothers’ values and needs are reflected in family routines; hence, thorough understanding of family routines may be a key to support mothers’ occupational engagement.
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10. Pfeiffer B, Erb SR, Slugg L. {{Impact of Noise-Attenuating Headphones on Participation in the Home, Community, and School for Children with Autism Spectrum Disorder}}. {Physical & occupational therapy in pediatrics}. 2018: 1-17.
AIM: The purpose of this study was to conceptualize the benefits and limitations of using noise-attenuating headphones for children with autism spectrum disorder (ASD) on participation in home, community, and school environments from the perspective of parents and teachers. METHODS: Grounded theory methodology was used to guide data collection and analysis. Ten parents and five teachers of children with ASD and auditory hypersensitivity aged 6-12 completed recorded interviews. Interviews were transcribed and crosschecked prior to analysis by two or more researchers. Constant comparison was used during open and axial coding followed by theoretical integration. RESULTS: Participants identified that the use of noise-attenuating headphones increased participation in home, community, and school settings. Barriers and benefits were identified for both around-ear and in-ear headphones. Preparation for use was an identified strategy that reduced the barriers and increased use of the headphones. Additionally, many of the children learned to predict when they needed the headphones and requested their use. CONCLUSION: Results of the study identified parental and teacher support for the use of noise-attenuating headphones to increase participation in natural environments for children with ASD, as well as suggestions to facilitate use for practicing physical and occupational therapists.
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11. White M, Franklin C. {{Adult with autism spectrum disorder presenting with insidious onset of catatonia}}. {The Australian and New Zealand journal of psychiatry}. 2018: 4867418802898.
