1. Bolte S. {{Autism spectrum disorders (ASD)}}. {Autism}. 2012 Nov;16(6):555-6.
2. Chen LS, Xu L, Huang TY, Dhar SU. {{Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Jan 3.
Purpose:The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.Methods:We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.Results:Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.Conclusion:As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents’ awareness, attitudes, and experiences regarding autism genetic testing.Genet Med advance online publication 3 Janurary 2013Genetics in Medicine (2013); doi:10.1038/gim.2012.145.
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3. Daley TC, Singhal N, Krishnamurthy V. {{Ethical Considerations in Conducting Research on Autism Spectrum Disorders in Low and Middle Income Countries}}. {J Autism Dev Disord}. 2013 Jan 3.
Autism spectrum disorder (ASD) is being identified in an ever-increasing number of countries, including many that are low or middle income (LMIC). Research conducted in these countries requires awareness of unique ethical issues. Drawing on the experience of two organizations that have been involved in conducting and collaborating in ASD research in India, we describe specific considerations in conducting epidemiological, genetic and treatment studies as well as general principles from the field of multinational clinical research as they apply to the conduct of ASD research. We argue that greater attention to ethical concerns will result in quality studies conducted in LMICs that are also of greatest relevance for families and children with ASD.
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4. Davis TN, Dacus S, Strickland E, Copeland D, Chan JM, Blenden K, Scalzo R, Osborn S, Wells K, Christian K. {{The effects of a weighted vest on aggressive and self-injurious behavior in a child with autism}}. {Developmental neurorehabilitation}. 2013 Jan 2.
Objective: Analyse the effects of a weighted vest on the aggressive and self-injurious behavior of a young boy with autism. Methods: The effects of the weighted vest were examined during a functional analysis utilizing an ABAB design with an embedded multielement design, in which the participant wore a five pound weighted vest or no vest. Results: The results do not suggest the existence of a functional relationship between the use of a weighted vest and challenging behavior, as the weighted vest had no marked effect on levels of aggression and self-injurious behavior. Conclusions: Weighted vests are a commonly implemented form of sensory integration therapy, frequently used as a treatment for disruptive behaviors associated with autism spectrum disorder [Stephenson J, Carter M. The use of weighted vests with children with autism spectrum disorders and other disabilities. Journal of Autism and Developmental Disabilities 2009;39:105-114]. However, the current findings support previous literature which states that the use of weighted vests does not appear to decrease challenging behavior.
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5. Esposito G, Ruggiero R, Savarese G, Savarese M, Tremolaterra MR, Salvatore F, Carsana A. {{A 15-year case-mix experience for Fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure}}. {Clin Chim Acta}. 2012 Dec 29.
Fragile X syndrome (FXS) is the main cause of heritable mental retardation. In most patients, it is associated with an increased number of CGG repeats (>200) within the 5′-untranslated region of the FMR1 gene, and with methylation of the expanded repeats and of the promoter. FXS female carriers and transmitting males have expansions of between 55 and 200 repeats (premutated alleles). Alleles with premutations are unstable in female meioses. Normal and premutated repeats are unmethylated in males and subject to lyonization in females. Here, we report the postnatal and prenatal molecular diagnoses of FXS made with conventional PCR and Southern blotting in a cohort of Italian patients and their families over a period of 15 years. Moreover, we tested two novel high-performance PCR procedures (PCR with a chimeric primer, and the AmplideX(TM) FMR1 kit) in our patients and compared the results with our previous observations. We concluded that the high-performance PCR assays complement the results obtained by conventional methods, but they cannot replace the Southern blot procedure. Consequently, also based on cost-benefit considerations, our FXS diagnostic flowchart now consists of conventional PCR and Southern blotting plus the chimeric primer PCR procedure, whereas the AmplideX(TM) procedure is reserved for doubtful cases.
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6. Ewing L, Pellicano E, Rhodes G. {{Atypical updating of face representations with experience in children with autism}}. {Dev Sci}. 2013 Jan;16(1):116-23.
Face identity aftereffects are significantly diminished in children with autism relative to typical children, which may reflect reduced perceptual updating with experience. Here, we investigated whether this atypicality also extends to non-face stimulus categories, which might signal a pervasive visual processing difference in individuals with autism. We used a figural aftereffect task to measure directly perceptual updating following exposure to distorted upright faces, inverted faces and cars, in typical children and children with autism. A size-change between study and test stimuli limited the likelihood that any processing atypicalities reflected group differences in adaptation to low-level features of the stimuli. Results indicated that, relative to typical children, figural aftereffects for upright faces, but not inverted faces or cars, were significantly attenuated in children with autism. Moreover, the group difference was amplified when we isolated the ‘face-selective’ component of the aftereffect, by partialling out the mid-level shape adaptation common to upright and inverted face stimuli. Notably, the aftereffects of typical children were disproportionately larger for upright faces than for inverted faces and cars, but the magnitude of aftereffects of autistic children was not similarly modulated according to stimulus category. These findings are inconsistent with a pervasive adaptive coding atypicality relative to typical children, and suggest that reduced perceptual updating may constitute a high-level, and possibly face-selective, visual processing difference in children with autism.
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7. Greco B, Manago F, Tucci V, Kao HT, Valtorta F, Benfenati F. {{Autism-related behavioral abnormalities in synapsin knockout mice}}. {Behavioural brain research}. 2012 Dec 29.
Several synaptic genes predisposing to autism-spectrum disorder (ASD) have been identified. Nonsense and missense mutations in the SYN1 gene encoding for Synapsin I have been identified in families segregating for idiopathic epilepsy and ASD and genetic mapping analyses have identified variations in the SYN2 gene as significantly contributing to epilepsy predisposition. Synapsins (Syn I/II/III) are a multigene family of synaptic vesicle-associated phosphoproteins playing multiple roles in synaptic development, transmission and plasticity. Lack of SynI and/or SynII triggers a strong epileptic phenotype in mice associated with mild cognitive impairments that are also present in the non-epileptic SynIII(-/-) mice. SynII(-/-) and SynIII(-/-) mice also display schizophrenia-like traits, suggesting that Syns could be involved in the regulation of social behavior. Here, we studied social interaction and novelty, social recognition and social dominance, social transmission of food preference and social memory in groups of male SynI(-/-), SynII(-/-) and SynIII(-/-) mice before and after the appearance of the epileptic phenotype and compared their performances with control mice. We found that deletion of Syn isoforms widely impairs social behaviors and repetitive behaviors, resulting in ASD-related phenotypes. SynI or SynIII deletion altered social behavior, whereas SynII deletion extensively impaired various aspects of social behavior and memory, altered exploration of a novel environment increased self-grooming. Social impairments of SynI(-/-) and SynII(-/-) mice were evident also before the onset of seizures. The results demonstrate an involvement of Syns in generation of the behavioral traits of ASD and identify Syn knockout mice as a useful experimental model of ASD and epilepsy.
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8. Kelly DJ, Walker R, Norbury CF. {{Deficits in volitional oculomotor control align with language status in autism spectrum disorders}}. {Dev Sci}. 2013 Jan;16(1):56-66.
Eye-tracking paradigms are increasingly used to investigate higher-level social and cognitive processing in autism spectrum disorder (ASD). However, the integrity of the oculomotor system within ASD is unclear, with contradictory reports of aberrant eye-movements on basic oculomotor tasks. The purpose of the current study was to determine whether reducing population heterogeneity and distinguishing neurocognitive phenotypes can clarify discrepancies in oculomotor behaviour evident in previous reports. Reflexive and volitional eye-movement control was assessed in 73 children aged 8-14 years from four distinct groups: Autism Language Normal (ALN), Autism Language Impaired (ALI), non-autistic Language Impaired (LI) and Typically Developing (TD). Eye-movement control was measured using pro- and antisaccade tasks and a novel ‘search distracter’ task to measure distractibility. Reflexive eye-movements were equivalent across groups, but deficits in volitional eye-movement control were found that aligned with language status, and were not specific to ASD. More than 80% of ALI and LI children presented error rates at least 1.5 SDs below the TD mean in an antisaccade task. In the search distracter task, 35.29% of ALI children and 43.75% of LI children had error rates greater than 1.5 SDs compared with 17.64% of ALN children. A significant proportion of children with neurodevelopmental disorders involving language function have pronounced difficulties suppressing reflexive saccades and maintaining fixations in the presence of competing stimuli. We extend the putative link between ALI and LI populations to non-language tasks, and highlight the need to account for co-morbidity in understanding the ontogenesis of ASD.
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9. Langdon PE, Murphy GH, Clare IC, Palmer EJ, Rees J. {{An Evaluation of the EQUIP Treatment Programme with Men who have Intellectual or Other Developmental Disabilities}}. {Journal of applied research in intellectual disabilities : JARID}. 2012 Dec 28.
BACKGROUND: The Equipping Youth to Help One Another Programme (EQUIP) was designed for young offenders to address a developmental delay in moral reasoning, distorted cognitions and social skills. METHODS: The present authors undertook a single case series study and piloted an adapted version of the EQUIP programme with three men with intellectual disabilities and four men with a diagnosis of Asperger Syndrome, all of whom were detained in a medium-secure forensic unit for people with intellectual disabilities. Treatment was delivered over a 12-week period, and participants took part in four-one-hour sessions per week. RESULTS: The results suggested that treatment was successful at increasing moral reasoning ability, reducing distorted cognitions and improving ability to choose effective solutions to problems. However, treatment did not have a significant effect upon anger. CONCLUSIONS: The EQUIP programme is a promising treatment, but further research is needed to investigate its effectiveness with men with intellectual or other developmental disabilities.
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10. Pani SC, Mubaraki SA, Ahmed YT, Alturki RY, Almahfouz SF. {{Parental perceptions of the oral health-related quality of life of autistic children in Saudi Arabia}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2013 Jan;33(1):8-12.
The aim of this study was to use parental perception to assess the Oral Health Related Quality of Life (OHRQoL) of children with Autism. A total of 59 families of children with Autism who had an unaffected sibling were cross-matched for age and gender of the affected child with families with no autistic children. The parents were administered the Parental Perception Questionnaire (P-CPQ) and the Family impact scale (FIS) components of and Arabic version of the Child Oral Health Related Quality of Life questionnaire (COHRQL). The P-CPQ scores of Children with Autism were compared with those of their unaffected siblings and those of children from families with no autistic child, while the FIS scores were compared between families with and without an autistic child. Regression models were constructed to show the association of sociodemographic factors on the OHRQoL of autistic children. The results of this study seem to suggest that childhood autism results in a reduced OHRQoL for both the affected child as well as the family. The apparent reduced parental concern with unaffected siblings of autistic children, when compared to parental concern towards children in families with no autistic child is an area that could merit further research.
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11. Saito K, Jang I, Kubota K, Hoshino T, Hotokezaka H, Yoshida N, Fujiwara T. {{Removable orthodontic appliance with nickel-titanium spring to reposition the upper incisors in an autistic patient}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2013 Jan;33(1):35-9.
A newly designed removable appliance with a shape-memory wire was used for the orthodontic treatment of the anterior teeth in an 11-year-old child who had autism and intellectual disability. The device was designed to reduce the lateral incisor crossbite and the central incisors’ labial rotation. The child was treated for 1 year with this removable appliance. Tooth movement was analyzed using cephalograms and surface data were derived from study models. This device proved to be very durable. The lateral incisor crossbite was corrected, and the inclination of the upper central incisors and the interincisal angle were improved. This appliance exerts light and continuous orthodontic force, without requiring any adjustments of the spring wire. The appliance also facilitated orthodontic treatment in a child with intellectual disability in whom treatment with a standard orthodontic device would be unsuitable.
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12. Samadi SA, McConkey R. {{The impact on Iranian mothers and fathers who have children with an autism spectrum disorder}}. {J Intellect Disabil Res}. 2012 Dec 28.
BACKGROUND: To date, most research with families who have a child with autism spectrum disorder (ASD) has been undertaken in English-speaking countries. Increased levels of stress allied with poorer health have been commonly reported for mothers, with less attention paid to fathers. This study aimed to document the personal impact on Iranian mothers and fathers and identify the correlates of increased stress and poorer emotional well-being. METHOD: In all, 103 parents (58 mothers and 45 fathers) from 74 families who had a child with ASD volunteered to take part in the study. Each participant completed through interview, standardised rating scales of parenting stress, emotional well-being and family functioning as well as rating their child’s autistic symptoms, including stereotyped behaviours. RESULTS: Mothers had significantly higher scores than fathers on measures of stress and emotional well-being. Although these variables were highly correlated, binary logistic regression identified that the poorer health was also associated with lower educational levels of the parents, more behavioural problems with the child and fewer autistic symptoms overall. A similar regression analysis of stress scores identified no gender differences but found that lower stress was associated with mothers and fathers who were joint caregivers and when the family lived with relatives. CONCLUSIONS: Iranian parents experience broadly similar responses to parents in other countries, which suggests that the impact of ASD outweighs any cultural differences that might otherwise be present in parental responses to caring for children. In common with families internationally, these parents are likely to benefit from opportunities to become better informed about ASD and the management of their child at home allied with increased support from families and friends.
