1. Berger NI, Ingersoll B. {{An Exploration of Imitation Recognition in Young Children With Autism Spectrum Disorders}}. {Autism Res}. 2013 May 20.
The ability to recognize when one is being imitated has been hypothesized to be an important developmental process related to the emergence of more advanced social-cognitive skills. While a series of behaviors indicating progressively more mature imitation recognition (IR) skills has been assessed in typically developing children, empirical work with children with autism spectrum disorders (ASDs) has largely focused on basic social responses to an imitative adult (e.g. increases in eye contact). Limited work has explored more mature IR behaviors in this population. This study compared the degree to which children with ASD engage in different behaviors thought to be indicative of IR during a naturalistic imitation task and the relationship between different types of IR behaviors and social-cognitive skills (i.e. imitation, language, social reciprocity, and joint attention). Thirty children with ASD were administered standardized measures of cognitive level, language, joint attention, social reciprocity, and imitation. IR behaviors were observed during periods of contingent imitation by an adult. Participants engaged more frequently in less mature (e.g. looking at the experimenter’s toy or face) than more mature IR behaviors (e.g. testing the experimenter’s intent to imitate). After controlling for developmental level, social reciprocity, object imitation, and gesture imitation were positively correlated with more mature IR. These findings suggest that the development of more mature IR skills is related to the development of other social-cognitive skills in children with ASD and provide additional empirical support for reports of more mature IR observed in this population. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, Macleod P, Percy AK. {{Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome}}. {Am J Med Genet A}. 2013 May 21.
The objective of our study was to characterize the influence of multiple mutations in the MECP2 gene in a cohort of individuals with Rett syndrome. Further analysis demonstrated that nearly all resulted from de novo in cis mutations, where the disease severity was indistinguishable from single mutations. Our methods involved enrolling participants in the RTT Natural History Study (NHS). After providing informed consent through their parents or principal caretakers, additional molecular assessments were performed in the participants and their parents to assess the presence and location of more than one mutation in each. Clinical severity was assessed at each visit in those participants in the NHS. Non-contiguous MECP2 gene variations were detected in 12 participants and contiguous mutations involving a deletion and insertion in three participants. Thirteen of 15 participants had mutations that were in cis; four (of 13) had three MECP2 mutations; two (of 15) had mutations that were both in cis and in trans (i.e., on different alleles). Clinical severity did not appear different from NHS participants with a single similar mutation. Mutations in cis were identified in most participants; two individuals had mutations both in cis and in trans. The presence of multiple mutations was not associated with greater severity. Nevertheless, multiple mutations will require greater thought in the future, if genetic assignment to drug treatment protocols is considered. (c) 2013 Wiley Periodicals, Inc.
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3. Davis SR, Durvasula S, Merhi D, Young PM, Traini D, Bosnic-Anticevich SZ. {{Respiratory medication use in an Australian developmental disability clinic population: messages for health care professionals}}. {Australian journal of primary health}. 2013 May 22.
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4. Eugene Arnold L. {{Commentary: Filling out the evidence base for treatment of attention-deficit hyperactivity disorder symptoms in children with intellectual and developmental disability: conclusions for clinicians – a response to Simonoff et al. (2013)}}. {J Child Psychol Psychiatry}. 2013 Jun;54(6):701-3.
This randomized clinical trial of methylphenidate in children with intellectual disability (ID) by Simonoff et al. (2013) advances the field in several ways useful to clinicians. The three-figure widely representative sample more definitively confirms findings previously reported from smaller studies and studies with a differently selected sample. The medium placebo-controlled effect size found is in line with previous more tentative suggestions for ID, such as those summarized by Aman et al. This sample, selected for ID but coincidentally including some children with autism (a third of the sample), nicely complements the RUPP Autism Network (2005) study of 72 children with autism, most of whom also had ID (mean IQ 62.6, range 16-135). Similar effect was found in both studies, suggesting that one might expect a medium effect widely in the intellectual & developmental disability (IDD) population, with a 40-50% response rate.
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5. Fahmy SF, El-Hamamsy M, Zaki O, Badary OA. {{Effect of L-carnitine on behavioral disorder in autistic children}}. {Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research}. 2013 May;16(3):A15.
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6. Frey HP, Molholm S, Lalor EC, Russo NN, Foxe JJ. {{Atypical cortical representation of peripheral visual space in children with an autism spectrum disorder}}. {The European journal of neuroscience}. 2013 May 22.
A key feature of early visual cortical regions is that they contain discretely organized retinotopic maps. Titration of these maps must occur through experience, and the fidelity of their spatial tuning will depend on the consistency and accuracy of the eye movement system. Anomalies in fixation patterns and the ballistics of eye movements are well documented in autism spectrum disorder (ASD), with off-center fixations a hallmark of the phenotype. We hypothesized that these atypicalities might affect the development of visuo-spatial maps and specifically that peripheral inputs might receive altered processing in ASD. Using high-density recordings of visual evoked potentials (VEPs) and a novel system-identification approach known as VESPA (visual evoked spread spectrum analysis), we assessed sensory responses to centrally and peripherally presented stimuli. Additionally, input luminance was varied to bias responsiveness to the magnocellular system, given previous suggestions of magnocellular-specific deficits in ASD. Participants were 22 ASD children (7-17 years of age) and 31 age- and performance-IQ-matched neurotypical controls. Both VEP and VESPA responses to central presentations were indistinguishable between groups. In contrast, peripheral presentations resulted in significantly greater early VEP and VESPA amplitudes in the ASD cohort. We found no evidence that anomalous enhancement was restricted to magnocellular-biased responses. The extent of peripheral response enhancement was related to the severity of stereotyped behaviors and restricted interests, cardinal symptoms of ASD. The current results point to differential visuo-spatial cortical mapping in ASD, shedding light on the consequences of peculiarities in gaze and stereotyped visual behaviors often reported by clinicians working with this population.
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7. Gaetz W, Bloy L, Wang DJ, Port RG, Blaskey L, Levy SE, Roberts TP. {{GABA estimation in the Brains of Children on the Autism Spectrum: Measurement precision and regional cortical variation}}. {NeuroImage}. 2013 May 23.
1H-magnetic resonance spectroscopy (1H-MRS) and spectral editing methods, such as MEGA-PRESS, allow researchers to investigate metabolite and neurotransmitter concentrations in-vivo. Here we address the utilization of 1H-MRS for the investigation of GABA concentrations in the ASD brain, in three locations; motor, visual and auditory areas. An initial repeatability study (5 subjects, 5 repeated measures separated by~5days on average) indicated no significant effect of reference metabolite choice on GABA quantitation (p>0.6). Coefficients of variation for GABA+/NAA, GABA+/Cr and GABA+/Glx were all of the order of 9-11%. Based on these findings, we investigated creatine-normalized GABA+ratios (GABA+/Cr) in a group of (n=17) children with autism spectrum disorder (ASD) and (n=17) typically developing children (TD) for Motor, Auditory and Visual regions of interest (ROIs). Linear regression analysis of grey matter (GM) volume changes (known to occur with development) revealed a significant decrease of GM volume with Age for Motor (F(1,30)=17.92; p<0.001) and Visual F(1,16)=14.41; p<0.005 but not the Auditory ROI(p=0.55). Inspection of GABA+/Cr changes with Age revealed a marginally significant change for the Motor ROI only (F(1,30)=4.11; p=0.054). Subsequent analyses was thus conducted for each ROI separately using Age and GM volume as covariates. No group differences in GABA+/Cr were observed for the Visual ROI between TD vs. ASD children. However, the Motor and Auditory ROI showed significantly reduced GABA+/Cr in ASD (Motor p<0.05; Auditory p<0.01). The mean deficiency in GABA+/Cr from the Motor ROI was approximately 11% and Auditory ROI was approximately 22%. Our novel findings support the model of regional differences in GABA+/Cr in the ASD brain, primarily in Auditory and to a lesser extent Motor but not Visual areas.
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8. Harlaar J, Gelderblom IL, van der Sijde A, Bastiaansen D. {{[An adolescent with autism and a somatic high-risk profile receiving treatment with antipsychotics refuses blood tests]}}. {Tijdschrift voor psychiatrie}. 2013;55(5):375-9.
An 18-year-old adolescent with an autism spectrum disorder was on antipsychotic medication for anxiety and aggressive behaviour. From a physical examination and the patient’s family medical history there emerged a high-risk profile for the metabolic syndrome. Because the patient refused blood tests the doctors were faced with the dilemma of whether to continue the patient’s medication with the risk of severe side effects or whether to stop medication, which could lead to the recurrence of severe behavioural problems and aggressive behaviour. The dilemma is discussed and some recommendations are given.
9. Hobert JA, Embacher R, Mester JL, Frazier TW, 2nd, Eng C. {{Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly}}. {European journal of human genetics : EJHG}. 2013 May 22.
Unlike some other childhood neurodevelopmental disorders, no diagnostic biochemical marker has been identified in all individuals with an autism spectrum disorder (ASD). This deficit likely results from genetic heterogeneity among the population. Therefore, we evaluated a subset of individuals with ASDs, specifically, individuals with or without macrocephaly in the presence or absence of PTEN mutations. We sought to determine if amino or organic acid markers could be used to identify individuals with ASDs with or without macrocephaly in the presence or absence of PTEN mutations, and to establish the degree of macrocephaly in individuals with ASDs and PTEN mutation. Urine, blood and occipital-frontal circumference (OFC) measurements were collected from 69 individuals meeting DSM-IV-TR criteria. Urine and plasma samples were subjected to amino and organic acid analyses. PTEN was Sanger-sequenced from germline genomic DNA. Germline PTEN mutations were identified in 27% (6/22) of the macrocephalic ASD population. All six PTEN mutation-positive individuals were macrocephalic with average OFC+4.35 standard deviations (SDs) above the mean. No common biochemical abnormalities were identified in macrocephalic ASD individuals with or without PTEN mutations. In contrast, among the collective ASD population, elevation of urine aspartic acid (87%; 54/62), plasma taurine (69%; 46/67) and reduction of plasma cystine (72%; 46/64) were observed. PTEN sequencing should be carried out for all individuals with ASDs and macrocephaly with OFC >/=2SDs above the mean. A proportion of individuals with ASDs may have an underlying disorder in sulfur amino acid metabolism.European Journal of Human Genetics advance online publication, 22 May 2013; doi:10.1038/ejhg.2013.114.
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10. Jarrold W, Mundy P, Gwaltney M, Bailenson J, Hatt N, McIntyre N, Kim K, Solomon M, Novotny S, Swain L. {{Social Attention in a Virtual Public Speaking Task in Higher Functioning Children With Autism}}. {Autism Res}. 2013 May 20.
Impairments in social attention play a major role in autism, but little is known about their role in development after preschool. In this study, a public speaking task was used to study social attention, its moderators, and its association with classroom learning in elementary and secondary students with higher functioning autism spectrum disorder (HFASD). Thirty-seven students with HFASD and 54 age- and intelligence quotient (IQ)-matched peers without symptoms of ASD were assessed in a virtual classroom public speaking paradigm. This paradigm assessed the ability to attend to nine avatar peers seated at a table, while simultaneously answering self-referenced questions. Students with HFASD looked less frequently to avatar peers in the classroom while talking. However, social attention was moderated in the HFASD sample such that students with lower IQ, and/or more symptoms of social anxiety, and/or more attention deficit/hyperactivity disorder inattentive symptoms, displayed more atypical social attention. Group differences were more pronounced when the classroom contained social avatars versus nonsocial targets. Moreover, measures of social attention rather than nonsocial attention were significantly associated with parent report and objective measures of learning in the classroom. The data in this study support the hypothesis of the Social Attention Model of ASD that social attention disturbance remains part of the school-aged phenotype of autism that is related to syndrome-specific problems in social learning. More research of this kind would likely contribute to advances in the understanding of the development of the spectrum of autism and educational intervention approaches for affected school-aged children. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Khanna R, Jariwala K, Bentley JP. {{Health utility assessment using EQ-5D among caregivers of children with Autism}}. {Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research}. 2013 May;16(3):A106.
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12. Khanna R, Jariwala K, Bentley JP. {{Psychometric properties of the euroqol five dimensional questionnaire (EQ-5D) in caregivers of autistic children}}. {Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research}. 2013 May;16(3):A106.
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13. Kobayashi R. {{[Considering on the type of ego structure with PDD from the viewpoint of relationship: in response to Hirosawa’s paper « Pervasive developmental disorder in adults; importance of diagnosis in concern to the type of ego structure with PDD »]}}. {Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica}. 2013;115(3):253-60.
14. Lim L, Marquand A, Cubillo AA, Smith AB, Chantiluke K, Simmons A, Mehta M, Rubia K. {{Disorder-specific predictive classification of adolescents with attention deficit hyperactivity disorder (ADHD) relative to autism using structural magnetic resonance imaging}}. {PLoS One}. 2013;8(5):e63660.
OBJECTIVE: Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder, but diagnosed by subjective clinical and rating measures. The study’s aim was to apply Gaussian process classification (GPC) to grey matter (GM) volumetric data, to assess whether individual ADHD adolescents can be accurately differentiated from healthy controls based on objective, brain structure measures and whether this is disorder-specific relative to autism spectrum disorder (ASD). METHOD: Twenty-nine adolescent ADHD boys and 29 age-matched healthy and 19 boys with ASD were scanned. GPC was applied to make disorder-specific predictions of ADHD diagnostic status based on individual brain structure patterns. In addition, voxel-based morphometry (VBM) analysis tested for traditional univariate group level differences in GM. RESULTS: The pattern of GM correctly classified 75.9% of patients and 82.8% of controls, achieving an overall classification accuracy of 79.3%. Furthermore, classification was disorder-specific relative to ASD. The discriminating GM patterns showed higher classification weights for ADHD in earlier developing ventrolateral/premotor fronto-temporo-limbic and stronger classification weights for healthy controls in later developing dorsolateral fronto-striato-parieto-cerebellar networks. Several regions were also decreased in GM in ADHD relative to healthy controls in the univariate VBM analysis, suggesting they are GM deficit areas. CONCLUSIONS: The study provides evidence that pattern recognition analysis can provide significant individual diagnostic classification of ADHD patients and healthy controls based on distributed GM patterns with 79.3% accuracy and that this is disorder-specific relative to ASD. Findings are a promising first step towards finding an objective differential diagnostic tool based on brain imaging measures to aid with the subjective clinical diagnosis of ADHD.
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15. Miltenberger CA, Charlop MH. {{Increasing the Athletic Group Play of Children with Autism}}. {J Autism Dev Disord}. 2013 May 23.
A multiple baseline design across three children with autism and within child across activity was used to assess the effects of interventions designed to teach children with autism to play two common athletic group games, handball and 4-square. Treatment consisted of two phases. In Phase I, athletic skills training, the children participated in sessions designed facilitate their acquisition of the athletic skills required by the targeted games. During Phase II, rules training, the children were instructed on the rules of the targeted games. Mastering the athletic skills and participating in rules training resulted in increased athletic group play and concomitant increases in speech. These gains were maintained at 8-16 weeks follow-up. However, generalization to participation in school recess activities did not occur.
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16. Murray AL, Booth T, McKenzie K, Kuenssberg R, O’Donnell M. {{Are Autistic Traits Measured Equivalently in Individuals With and Without An Autism Spectrum Disorder? An Invariance Analysis of the Autism Spectrum Quotient Short Form}}. {J Autism Dev Disord}. 2013 May 22.
It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent to which measures of autistic traits actually measure the same traits in the same way across those with and without an ASD. We addressed this question using a multi-group confirmatory factor invariance analysis of the Autism Quotient Short Form (AQ-S: Hoekstra et al. in J Autism Dev Disord 41(5):589-596, 2011) across those with (n = 148) and without (n = 168) ASD. Metric variance (equality of factor loadings), but not scalar invariance (equality of thresholds), held suggesting that the AQ-S measures the same latent traits in both groups, but with a bias in the manner in which trait levels are estimated. We, therefore, argue that the AQ-S can be used to investigate possible causes and consequences of autistic traits in both groups separately, but caution is due when combining or comparing levels of autistic traits across the two groups.
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17. Pretto DID, Hunsaker MRD, Cunningham CLD, Hagerman RJD, Greco CMD, Hall DAD, Noctor SCD, Hagerman PJD, Tassone FD. {{Intranuclear inclusions in a Fragile X mosaic male}}. {Translational neurodegeneration}. 2013 May 21;2(1):10.
Lack of the fragile X mental retardation protein leads to Fragile X syndrome (FXS) while increased levels of FMR1 mRNA, as those observed in premutation carriers can lead to Fragile X- associated tremor ataxia syndrome (FXTAS). Until recently, FXTAS had been observed only in carriers of an FMR1 premutation (55-200 CGG repeats); however the disorder has now been described in individuals carriers of an intermediate allele (45-54 CGG repeats) as well as in a subject with a full mutation with mosaicism. Here, we report on molecular and clinical data of a male FMR1 mosaic individual with full and premutation alleles. Molecular analysis of FMR1 and FMRP expression in this subject is consistent with a FXS phenotype. We observed reduced expression of FMRP in both peripheral blood and brain leading to the FXS diagnosis. In addition, a dramatic 90% depletion of both FMR1 mRNA and FMRP levels was observed in the blood, as normally observed in FXS cases, and an even greater depletion in the brain. A clinical report of this patient, at age 71, described neurodegenerative signs of parkinsonism that were likely, in retrospect, part of a FXTAS scenario as post-mortem examination shows the presence of intranuclear inclusions, the hallmark pathology of FXTAS. The findings presented in this study indicate co-morbidity for both FXS and FXTAS in this individual carrying both full and premutation FMR1 alleles. In addition, based on symptoms and pathological and molecular evidence, this report suggests the need to redefine the diagnostic criteria of FXTAS.
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18. R GK, S JC, Le Couteur A, Gould J, Wing L, Maljaars J, Noens I, van Berckelaer-Onnes I, S RL. {{Diagnosing Autism Spectrum Disorder: who will get a DSM-5 diagnosis?}}. {J Child Psychol Psychiatry}. 2013 May 23.
BACKGROUND: Introduction of proposed criteria for DSM-5 Autism Spectrum Disorder (ASD) has raised concerns that some individuals currently meeting diagnostic criteria for Pervasive Developmental Disorder (PDD; DSM-IV-TR/ICD-10) will not qualify for a diagnosis under the proposed changes. To date, reports of sensitivity and specificity of the new criteria have been inconsistent across studies. No study has yet considered how changes at the ‘sub domain’ level might affect overall sensitivity and specificity, and few have included individuals of different ages and ability levels. METHODS: A set of DSM-5 ASD algorithms were developed using items from the Diagnostic Interview for Social and Communication Disorders (DISCO). The number of items required for each DSM-5 subdomain was defined either according to criteria specified by DSM-5 (Initial Algorithm), a statistical approach (Youden J Algorithm), or to minimise the number of false positives while maximising sensitivity (Modified Algorithm). The algorithms were designed, tested and compared in two independent samples (Sample 1, N = 82; Sample 2, N = 115), while sensitivity was assessed across age and ability levels in an additional dataset of individuals with an ICD-10 PDD diagnosis (Sample 3, N = 190). RESULTS: Sensitivity was highest in the Initial Algorithm, which had the poorest specificity. Although Youden J had excellent specificity, sensitivity was significantly lower than in the Modified Algorithm, which had both good sensitivity and specificity. Relaxing the domain A rules improved sensitivity of the Youden J Algorithm, but it remained less sensitive than the Modified Algorithm. Moreover, this was the only algorithm with variable sensitivity across age. All versions of the algorithm performed well across ability level. CONCLUSIONS: This study demonstrates that good levels of both sensitivity and specificity can be achieved for a diagnostic algorithm adhering to the DSM-5 criteria that is suitable across age and ability level.
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19. Raznahan A, Wallace GL, Antezana L, Greenstein D, Lenroot R, Thurm A, Gozzi M, Spence S, Martin A, Swedo SE, Giedd JN. {{Compared to What? Early Brain Overgrowth in Autism and the Perils of Population Norms}}. {Biol Psychiatry}. 2013 May 23.
BACKGROUND: Early brain overgrowth (EBO) in autism spectrum disorder (ASD) is among the best replicated biological associations in psychiatry. Most positive reports have compared head circumference (HC) in ASD (an excellent proxy for early brain size) with well-known reference norms. We sought to reappraise evidence for the EBO hypothesis given 1) the recent proliferation of longitudinal HC studies in ASD, and 2) emerging reports that several of the reference norms used to define EBO in ASD may be biased toward detecting HC overgrowth in contemporary samples of healthy children. METHODS: Systematic review of all published HC studies in children with ASD. Comparison of 330 longitudinally gathered HC measures between birth and 18 months from male children with autism (n = 35) and typically developing control subjects (n = 22). RESULTS: In systematic review, comparisons with locally recruited control subjects were significantly less likely to identify EBO in ASD than norm-based studies (p < .001). Through systematic review and analysis of new data, we replicate seminal reports of EBO in ASD relative to classical HC norms but show that this overgrowth relative to norms is mimicked by patterns of HC growth age in a large contemporary community-based sample of US children (n ~ 75,000). Controlling for known HC norm biases leaves inconsistent support for a subtle, later emerging and subgroup specific pattern of EBO in clinically ascertained ASD versus community control subjects. CONCLUSIONS: The best-replicated aspects of EBO reflect generalizable HC norm biases rather than disease-specific biomarkers. The potential HC norm biases we detail are not specific to ASD research but apply throughout clinical and academic medicine.
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20. Shah D, Giannetti V, Pfalzgraf A. {{Caregiver burden and social support in families of children with autism: A literature review}}. {Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research}. 2013 May;16(3):A64.
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21. Tobak O, Boncz I, Lampek K. {{The situation of the families with autistic children in Hungary}}. {Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research}. 2013 May;16(3):A63.
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22. Van Lierde A, Menni F, Bedeschi MF, Natacci F, Guez S, Vizziello P, Costantino MA, Lalatta F, Esposito S. {{Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams-beuren syndrome}}. {Am J Med Genet A}. 2013 May 21.
There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications. (c) 2013 Wiley Periodicals, Inc.
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23. Vohra R, Madhavan S, Sambamoorthi U. {{Difficulty using services for caregivers of children with autism spectrum disorders (ASD)}}. {Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research}. 2013 May;16(3):A67-8.
