1. Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destree A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaine A, Vigouroux A, Jonveaux P, Philippe C. {{14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements}}. {Eur J Hum Genet}. 2012.
The Forkhead box G1 (FOXG1) gene has been implicated in severe Rett-like phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor critical for forebrain development. Recently, the core FOXG1 syndrome was defined as postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients with a severe Rett-like neurodevelopment disorder associated with de novo FOXG1 point mutations (two cases) or 14q12 deletions (five cases). We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. Dysgenesis of the corpus callosum and dyskinesia are not always present in FOXG1-mutated patients. We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 SD) and few clinical features suggestive of Rett syndrome. Interestingly enough, three 14q12 deletions that do not include the FOXG1 gene are associated with phenotypes very reminiscent to that of FOXG1-mutation-positive patients. We physically mapped a putative long-range FOXG1-regulatory element in a 0.43 Mb DNA segment encompassing the PRKD1 locus. In fibroblast cells, a cis-acting regulatory sequence located more than 0.6 Mb away from FOXG1 acts as a silencer at the transcriptional level. These data are important for clinicians and for molecular biologists involved in the management of patients with severe encephalopathies compatible with a FOXG1-related phenotype.European Journal of Human Genetics advance online publication, 27 June 2012; doi:10.1038/ejhg.2012.127.
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2. Bachman SS, Comeau M, Tobias C, Allen D, Epstein S, Jantz K, Honberg L. {{State health care financing strategies for children with intellectual and developmental disabilities}}. {Intellect Dev Disabil}. 2012; 50(3): 181-9.
Abstract We provide the first descriptive summary of selected programs developed to help expand the scope of coverage, mitigate family financial hardship, and provide health and support services that children with intellectual and developmental disabilities need to maximize their functional status and quality of life. State financing initiatives were identified through interviews with family advocacy, Title V, and Medicaid organizational representatives. Results showed that states use myriad strategies to pay for care and maximize supports, including benefits counseling, consumer- and family-directed care, flexible funding, mandated benefits, Medicaid buy-in programs, and Tax Equity and Fiscal Responsibility Act of 1982 funding. Although health reform may reduce variation among states, its impact on families of children with intellectual and developmental disabilities is not yet clear. As health reform is implemented, state strategies to ameliorate financial hardship among families of children with intellectual and developmental disabilities show promise for immediate use. However, further analysis and evaluation are required to understand their impact on family and child well-being.
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3. Bailey DB, Jr., Lewis MA, Harris SL, Grant T, Bann C, Bishop E, Roche M, Guarda S, Barnum L, Powell C, Therrell BL, Jr. {{Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study}}. {J Genet Couns}. 2012.
The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.
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4. Cascio MA. {{Neurodiversity: autism pride among mothers of children with autism spectrum disorders}}. {Intellect Dev Disabil}. 2012; 50(3): 273-83.
Abstract The neurodiversity movement takes an identity politics approach to autism spectrum disorders, proposing autism spectrum disorders as a positive « neuro-variation » to be approached only with interventions that assist individuals without changing them. This article explicates the concept of neurodiversity and places it within the context of autism spectrum disorders advocacy and treatments. It draws from fieldwork conducted in a midwestern urban center, from June through October 2008, with support groups for parents of children with autism spectrum disorders. Neurodiverse sentiments were identified within these groups, despite the pursuance of treatments to which some neurodiversity advocates might object. Therefore, although neurodiversity has influenced parents of children with autism spectrum disorders in this sample, its role as a medical advocacy group has not been fully realized. This article attempts to place neurodiversity in better conversation with advocates and medical professionals.
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5. Chaste P, Betancur C, Gerard-Blanluet M, Bargiacchi A, Kuzbari S, Drunat S, Leboyer M, Bourgeron T, Delorme R. {{High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters}}. {Mol Autism}. 2012; 3(1): 5.
ABSTRACT: BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ. METHODS: The methylation status of the mutated FMR1 alleles was examined by Southern blot and methylation-sensitive polymerase chain reaction. The X-chromosome inactivation was determined by analyzing the methylation status of the androgen receptor at Xq12. RESULTS: We present the phenotype of the two sisters and other family members. Both sisters carried a full mutation in the FMR1 gene, with complete methylation and random X chromosome inactivation. CONCLUSIONS: These findings suggest that autistic behaviors and cognitive impairment can manifest as independent traits in FXS. Mutations in FMR1, known to cause syndromic autism, may also contribute to the etiology of high-functioning, non-syndromic ASD, particularly in women. Thus, screening for FXS in patients with ASD should not be limited to those with comorbid ID.
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6. Duffy FH, Als H. {{A stable pattern of EEG spectral coherence distinguishes children with autism from neuro-typical controls – a large case control study}}. {BMC Med}. 2012; 10(1): 64.
ABSTRACT: BACKGROUND: The autism rate has recently increased to 1 in 100 children. Genetic studies demonstrate poorly understood complexity. Environmental factors apparently also play a role. Magnetic resonance imaging (MRI) studies demonstrate increased brain sizes and altered connectivity. EEG coherence studies confirm connectivity changes. However, genetic-, MRI-, and/or EEG-based diagnostic tests are not yet available. The varied study results likely reflect methodological and population differences, small samples, and for EEG, lack of attention to group-specific artifact. METHODS: Of the 1304 subjects with ages ranging from 1 to 18 years old and assessed with comparable EEG studies who participated in this study, 463 children were diagnosed with autism spectrum disorder (ASD); 571 children were neuro-typical controls (C). After artifact management, principal components analysis (PCA) identified EEG spectral coherence factors with corresponding loading patterns. The 2-12 year old subsample consisted of 430 ASD- and 554 C-group subjects (n=984). Discriminant function analysis (DFA) determined the spectral coherence factors’ discrimination success for the two groups. Loading patterns on the DFA-selected coherence factors described ASD-specific coherence differences when compared to controls. RESULTS: Total sample PCA of coherence data identified 40 factors which explained 50.8% of the total population variance. For the 2-12 year olds the 40 factors showed highly significant group differences (p<0.0001). Ten randomly generated split half replications demonstrated high-average classification success (C, 88.5%; ASD, 86.0%). Still higher success was obtained in the more restricted age sub-samples using the jackknifing technique: 2-4 year olds (C, 90.6%; ASD, 98.1%); 4-6 year olds (C, 90.9%; ASD 99.1%); and 6-12 year-olds (C, 98.7%; ASD, 93.9%). Coherence loadings demonstrated reduced short-distance and reduced as well as increased long-distance coherences for the ASD-groups, when compared to the controls. Average spectral loading per factor was wide (10.1 Hz). CONCLUSIONS: Classification success suggests a stable coherence loading pattern that differentiates ASD- from C-group subjects. This might constitute an EEG coherence-based phenotype of childhood autism. The predominantly reduced short-distance- coherences may indicate poor local network function. The increased long-distance- coherences may represent compensatory processes or reduced neural pruning. The wide average spectral range of factor loadings may suggest over-damped neural networks.
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7. Fickert NA, Ross D. {{Effectiveness of a caregiver education program on providing oral care to individuals with intellectual and developmental disabilities}}. {Intellect Dev Disabil}. 2012; 50(3): 219-32.
Abstract Caregivers who work in community living arrangements or intermediate care facilities are responsible for the oral hygiene of individuals with intellectual and developmental disabilities. Oral hygiene training programs do not exist in many organizations, despite concerns about the oral care of this population. The purpose of this study was to determine the effectiveness of a caregiver educational program. This study used a quasi-experimental one-group pretest/posttest design with repeated measures to describe the outcomes of an educational program. Program participants demonstrated oral hygiene skills on each other while being scored by a trained observer, after which they completed an oral hygiene compliance survey. After three months, a follow-up included the same posttest, demonstration of oral hygiene skills, and repeat of the compliance survey. Paired-sample t-tests of oral hygiene knowledge showed a statistically significant improvement from pretest to posttest and from pretest to three-month posttest. Oral hygiene skills and compliance improved. Results demonstrate evidence that caregiver education improves knowledge, skill, and compliance in oral hygiene. Further studies are required to demonstrate the value of providing oral hygiene education and training for caregivers of individuals with intellectual and developmental disabilities.
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8. Kuusikko-Gauffin S, Pollock-Wurman R, Mattila ML, Jussila K, Ebeling H, Pauls D, Moilanen I. {{Social Anxiety in Parents of High-Functioning Children with Autism and Asperger Syndrome}}. {J Autism Dev Disord}. 2012.
We evaluated social anxiety (SA) symptoms in parents of children with autism spectrum disorders (ASDs; N = 131) and community parents (N = 597) using the Social Phobia and Anxiety Inventory (SPAI). SA was significantly more common in ASD than control mothers (15.6 vs. 6.7 %) and more equal between the ASD and control fathers (3.3 vs. 4.8 %). The ASD mothers scored significantly higher than control mothers on all SPAI scales. ASD fathers scored significantly higher than control fathers on the somatic, cognitive, avoidance and agoraphobic symptoms of SA. It is of clinical import to support ASD parents’ well-being as their psychiatric features may contribute greatly to their children’s emotional development and the well-being of the whole family.
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9. Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Keo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P. {{Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism}}. {Epilepsia}. 2012.
Purpose: The continuous spike and waves during slow-wave sleep syndrome (CSWSS) and the Landau-Kleffner (LKS) syndrome are two rare epileptic encephalopathies sharing common clinical features including seizures and regression. Both CSWSS and LKS can be associated with the electroencephalography pattern of electrical status epilepticus during slow-wave sleep and are part of a clinical continuum that at its benign end also includes rolandic epilepsy (RE) with centrotemporal spikes. The CSWSS and LKS patients can also have behavioral manifestations that overlap the spectrum of autism disorders (ASD). An impairment of brain development and/or maturation with complex interplay between genetic predisposition and nongenetic factors has been suspected. A role for autoimmunity has been proposed but the pathophysiology of CSWSS and of LKS remains uncharacterized. Methods: In recent years, the participation of rare genomic alterations in the susceptibility to epileptic and autistic disorders has been demonstrated. The involvement of copy number variations (CNVs) in 61 CSWSS and LKS patients was questioned using comparative genomic hybridization assays coupled with validation by quantitative polymerase chain reaction (PCR). Key Findings: Whereas the patients showed highly heterogeneous in genomic architecture, several potentially pathogenic alterations were detected. A large number of these corresponded to genomic regions or genes (ATP13A4, CDH9, CDH13, CNTNAP2, CTNNA3, DIAPH3, GRIN2A, MDGA2, SHANK3) that have been either associated with ASD for most of them, or involved in speech or language impairment, or in RE. Particularly, CNVs encoding cell adhesion proteins (cadherins, protocadherins, contactins, catenins) were detected with high frequency ( approximately 20% of the patients) and significant enrichment (cell adhesion: p = 0.027; cell adhesion molecule binding: p = 9.27 x 10(-7) ). Significance: Overall our data bring the first insights into the possible molecular pathophysiology of CSWSS and LKS. The overrepresentation of cell adhesion genes and the strong overlap with the genetic, genomic and molecular ASD networks, provide an exciting and unifying view on the clinical links among CSWSS, LKS, and ASD.
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10. Louis P. {{Does the Human Gut Microbiota Contribute to the Etiology of Autism Spectrum Disorders?}}. {Dig Dis Sci}. 2012.
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11. Matson JL, Hattier MA, Williams LW. {{How Does Relaxing the Algorithm for Autism Affect DSM-V Prevalence Rates?}}. {J Autism Dev Disord}. 2012.
Although it is still unclear what causes autism spectrum disorders (ASDs), over time researchers and clinicians have become more precise with detecting and diagnosing ASD. Many diagnoses, however, are based on the criteria established within the Diagnostic and Statistical Manual of Mental Disorders (DSM); thus, any change in these diagnostic criteria can have a great effect upon children with ASD and their families. It is predicted that the prevalence of ASD diagnoses will dramatically decrease with the adoption of the proposed DSM-5 criteria in 2013. The aim of this current study was to inspect the changes in prevalence first using a diagnostic criteria set which was modified slightly from the DSM-5 criteria (Modified-1 criteria) and again using a set of criteria which was relaxed even a bit more (Modified-2 criteria). Modified-1 resulted in 33.77 % fewer toddlers being diagnosed with ASD compared to the DSM-IV, while Modified-2 resulted in only a 17.98 % decrease in ASD diagnoses. Children diagnosed with the DSM-5 criteria exhibited the greatest levels of autism symptomatology, but the Mod-1, Mod-2, and DSM-IV groups still demonstrated significant impairments. Implications of these findings are discussed.
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12. Mazzone L, Ruta L, Reale L. {{Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges}}. {Ann Gen Psychiatry}. 2012; 11(1): 16.
ABSTRACT: Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS) and High Functioning Autism (HFA). In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications.
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13. Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. {{Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome}}. {Am J Med Genet A}. 2012.
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Autism has been reported to occur frequently in CdLS, but the frequency of autism in individuals with the milder CdLS phenotype is not well studied. We investigated autistic features by using a screening tool and a diagnostic interview in 49 individuals with the mild to moderate phenotype from a CdLS research database at the Children’s Hospital of Philadelphia. The Social Communication Questionnaire (SCQ), a screening instrument for autistic disorder, was completed for all individuals. For individuals who screened positive and a subset of those that screened negative, the Autism Diagnostic Interview-Revised (ADI-R) was administered. Autistic symptom severity was not significantly different by gender, age groups, and genotypes. There was a significant correlation between higher levels of adaptive functioning and lower scores of autistic symptoms. The estimated prevalence of significant autistic features by ADI-R criteria was 43% in our cohort of individuals with the mild to moderate CdLS phenotype, which suggests that prevalence of autistic disorder may be higher than previously described among individuals with mild to moderate phenotype of CdLS. Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention. (c) 2012 Wiley Periodicals, Inc.
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14. Parish S, Thomas K, Rose R, Kilany M, McConville R. {{State insurance parity legislation for autism services and family financial burden}}. {Intellect Dev Disabil}. 2012; 50(3): 190-8.
Abstract We examined the association between states’ legislative mandates that private insurance cover autism services and the health care-related financial burden reported by families of children with autism. Child and family data were drawn from the National Survey of Children with Special Health Care Needs (N = 2,082 children with autism). State policy characteristics were taken from public sources. The 3 outcomes were whether a family had any out-of-pocket health care expenditures during the past year for their child with autism, the expenditure amount, and expenditures as a proportion of family income. We modeled the association between states’ autism service mandates and families’ financial burden, adjusting for child-, family-, and state-level characteristics. Overall, 78% of families with a child with autism reported having any health care expenditures for their child for the prior 12 months. Among these families, 54% reported expenditures of more than $500, with 34% spending more than 3% of their income. Families living in states that enacted legislation mandating coverage of autism services were 28% less likely to report spending more than $500 for their children’s health care costs, net of child and family characteristics. Families living in states that enacted parity legislation mandating coverage of autism services were 29% less likely to report spending more than $500 for their children’s health care costs, net of child and family characteristics. This study offers preliminary evidence in support of advocates’ arguments that requiring private insurers to cover autism services will reduce families’ financial burdens associated with their children’s health care expenses.
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15. Paul R, Campbell D, Gilbert K, Tsiouri I. {{Comparing Spoken Language Treatments for Minimally Verbal Preschoolers with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2012.
Preschoolers with severe autism and minimal speech were assigned either a discrete trial or a naturalistic language treatment, and parents of all participants also received parent responsiveness training. After 12 weeks, both groups showed comparable improvement in number of spoken words produced, on average. Approximately half the children in each group achieved benchmarks for the first stage of functional spoken language development, as defined by Tager-Flusberg et al. (J Speech Lang Hear Res, 52: 643-652, 2009). Analyses of moderators of treatment suggest that joint attention moderates response to both treatments, and children with better receptive language pre-treatment do better with the naturalistic method, while those with lower receptive language show better response to the discrete trial treatment. The implications of these findings are discussed.
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16. Pilling S, Baron-Cohen S, Megnin-Viggars O, Lee R, Taylor C. {{Recognition, referral, diagnosis, and management of adults with autism: summary of NICE guidance}}. {BMJ}. 2012; 344: e4082.
17. Scotti JR, Stevens SB, Jacoby VM, Bracken MR, Freed R, Schmidt E. {{Trauma in people with intellectual and developmental disabilities: reactions of parents and caregivers to research participation}}. {Intellect Dev Disabil}. 2012; 50(3): 199-206.
Abstract Generally, studies have revealed that only a minority of people are bothered by participation in research on traumatic stress. Severity of traumatic events and subsequent responses are typically unrelated to negative reactions. We included 386 family members and caregivers (respondents) of people with intellectual and developmental disabilities (focus people). Focus people (ages 4-82) had a wide range of physical and intellectual disabilities, medical and behavioral problems, and exposure to potentially traumatic events. The measures of impact of research participation (based on J. I. Ruzek & D. F. Zatzick’s [2000] Reactions to Research Participation Questionnaire [RRPQ]; S. Folkman and R. S. Lazarus’s [1986 , 1988 ] Emotional Responses to Participation Scale) showed good psychometric properties. Response to participation was highly skewed toward good understanding of informed consent, valuing participation, and minimal negative reactions. Number of traumatic events was related, positively, to only one RRPQ subscale: Valuing Participation. Implications for research and clinical work are discussed.
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18. Stewart SL, Baiden P, Theall-Honey L. {{Factors associated with the use of intrusive measures at a tertiary care facility for children and youth with mental health and developmental disabilities}}. {Int J Ment Health Nurs}. 2012.
This study seeks to identify some of the explanatory factors associated with the use of intrusive measures among children with mental health and developmental disabilities in psychiatric facilities. Intrusive intervention data were collected using an organizational database that was developed internally at a tertiary care facility. The sample was composed of 338 children/youth aged between 6 and 18 years (mean = 12.33, standard deviation = 2.70) admitted within a 2-year period. Logistic regression was used to examine the relationship between chemical restraint, physical restraint and secure isolation, and programme type after controlling for demographic and other relevant client characteristics. The study found that the number of chemical restraints and secure isolations was higher for clients with developmental disabilities than for clients with mental health, whereas the number of physical restraints was lower for clients with developmental disabilities than clients with mental health issues. Demographic variables also predicted specific types of intrusive measures. The results of this study outline the differential factors associated with specific types of intrusive measures to control aggressive and self-harm behaviours. The paper also outlines cultural change initiatives, organizational interventions, and policy implications for best practice services for children/youth in psychiatric facilities to further reduce intrusive measures.
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19. van Steensel FJ, Bogels SM, Wood JJ. {{Autism Spectrum Traits in Children with Anxiety Disorders}}. {J Autism Dev Disord}. 2012.
The aim of this study was to examine ASD traits in children with clinical anxiety in early development, as well as current manifestations. Parents of 42 children with an anxiety disorder (but no known diagnosis of ASD) and 42 typically developing children were interviewed using the Autism Diagnostic Interview (ADI-R). They also completed questionnaires that assessed child anxiety (SCARED-71) and children’s ASD symptoms. Results revealed that children with anxiety disorders had higher scores than typically developing children, for both ASD traits in early development as well as current ASD symptoms. A specific association was found between symptoms of Social Anxiety Disorder and ASD traits early in life. Findings are considered in terms of clinical implications, and limitations are discussed.
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20. Wentz E, Nyden A, Krevers B. {{Development of an internet-based support and coaching model for adolescents and young adults with ADHD and autism spectrum disorders: a pilot study}}. {Eur Child Adolesc Psychiatry}. 2012.
The aims of this paper were to develop an internet-based support and coaching model for young people with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD), and to validate the model. A user-centred design was applied to develop a model for internet-based support and coaching, where individuals received 8-week support via internet (chat). The model was validated by 10 individuals, 15-26 years of age, with ASD and/or ADHD. Self-report questionnaires [Sense of Coherence (SOC), the Rosenberg Self Esteem Scale, the Manchester Short Assessment of Quality of Life, Montgomery Asberg Depression Rating Scale, and the Hospital Anxiety and Depression Scale] were distributed before and after intervention. A structured interview regarding the quality of the model, the Patient perspective of Care and Rehabilitation process (POCR), was used after the intervention. The validation showed significant improvement of SOC, self-esteem and subjective Quality of Life at follow-up and the majority perceived high fulfilment/importance on the POCR. In conclusion, The model can be an important complement to other interventions for young people with ASD and/or ADHD.
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21. White SW, Ollendick T, Albano AM, Oswald D, Johnson C, Southam-Gerow MA, Kim I, Scahill L. {{Randomized Controlled Trial: Multimodal Anxiety and Social Skill Intervention for Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2012.
Anxiety is common among adolescents with autism spectrum disorders (ASD) and may amplify the core social disability, thus necessitating combined treatment approaches. This pilot, randomized controlled trial evaluated the feasibility and preliminary outcomes of the Multimodal Anxiety and Social Skills Intervention (MASSI) program in a sample of 30 adolescents with ASD and anxiety symptoms of moderate or greater severity. The treatment was acceptable to families, subject adherence was high, and therapist fidelity was high. A 16 % improvement in ASD social impairment (within-group effect size = 1.18) was observed on a parent-reported scale. Although anxiety symptoms declined by 26 %, the change was not statistically significant. These findings suggest MASSI is a feasible treatment program and further evaluation is warranted.
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22. Williams D, Payne H, Marshall C. {{Non-word Repetition Impairment in Autism and Specific Language Impairment: Evidence for Distinct Underlying Cognitive Causes}}. {J Autism Dev Disord}. 2012.
Language-impaired individuals with autism perform poorly on tests such as non-word repetition that are sensitive clinical markers of specific language impairment (SLI). This has fuelled the theory that language impairment in autism represents a co-morbid SLI. However, the underlying cause of these deficits may be different in each disorder. In a novel task, we manipulated non-word stimuli in three ways known to influence the repetition accuracy of children with SLI. Participants with SLI were affected differently by these manipulations to children with autism. Children with autism performed similarly to language-matched typical children in terms of levels and patterns of performance, and types of error made, suggesting that the underlying cognitive cause of non-word repetition deficits is different in each disorder.