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Auteur David SKUSE
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Documents disponibles écrits par cet auteur (42)
Faire une suggestion Affiner la rechercheAssessing Autism in Adults: An Evaluation of the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult) / William MANDY in Journal of Autism and Developmental Disorders, 48-2 (February 2018)
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Titre : Assessing Autism in Adults: An Evaluation of the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult) Type de document : texte imprimé Auteurs : William MANDY, Auteur ; Kiri CLARKE, Auteur ; M. MCKENNER, Auteur ; Andre STRYDOM, Auteur ; Jason CRABTREE, Auteur ; Meng-Chuan LAI, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; David SKUSE, Auteur Article en page(s) : p.549-560 Langues : Anglais (eng) Mots-clés : Adults Assessment and diagnosis Autism spectrum conditions (ASC) Autism spectrum disorder (ASD) Diagnostic and statistical manual, fifth edition (DSM-5) Index. décimale : PER Périodiques Résumé : We developed a brief, informant-report interview for assessing autism spectrum conditions (ASC) in adults, called the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult); and completed a preliminary evaluation. Informant reports were collected for participants with ASC (n = 39), a non-clinical comparison group (n = 29) and a clinical comparison group (n = 20) who had non-autistic mental health conditions. Mean administration time was 38 min (50 min for ASC). Internal consistency (alphas >/= 0.93) and inter-rater agreement (ICCs >/= 0.99) were high. When discriminating ASC from non-ASC, the 3Di-Adult showed excellent sensitivity (95%) and specificity (92%). The 3Di-Adult shows promise as a psychometrically sound and time-efficient interview for collecting standardised informant reports for DSM-5 assessments of ASC in adults, in research and clinical practice. En ligne : https://doi.org/10.1007/s10803-017-3321-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=338
in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.549-560[article] Assessing Autism in Adults: An Evaluation of the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult) [texte imprimé] / William MANDY, Auteur ; Kiri CLARKE, Auteur ; M. MCKENNER, Auteur ; Andre STRYDOM, Auteur ; Jason CRABTREE, Auteur ; Meng-Chuan LAI, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; David SKUSE, Auteur . - p.549-560.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.549-560
Mots-clés : Adults Assessment and diagnosis Autism spectrum conditions (ASC) Autism spectrum disorder (ASD) Diagnostic and statistical manual, fifth edition (DSM-5) Index. décimale : PER Périodiques Résumé : We developed a brief, informant-report interview for assessing autism spectrum conditions (ASC) in adults, called the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult); and completed a preliminary evaluation. Informant reports were collected for participants with ASC (n = 39), a non-clinical comparison group (n = 29) and a clinical comparison group (n = 20) who had non-autistic mental health conditions. Mean administration time was 38 min (50 min for ASC). Internal consistency (alphas >/= 0.93) and inter-rater agreement (ICCs >/= 0.99) were high. When discriminating ASC from non-ASC, the 3Di-Adult showed excellent sensitivity (95%) and specificity (92%). The 3Di-Adult shows promise as a psychometrically sound and time-efficient interview for collecting standardised informant reports for DSM-5 assessments of ASC in adults, in research and clinical practice. En ligne : https://doi.org/10.1007/s10803-017-3321-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=338 Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder / Miia KAARTINEN in Autism, 23-1 (January 2019)
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Titre : Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder Type de document : texte imprimé Auteurs : Miia KAARTINEN, Auteur ; Kaija PUURA, Auteur ; Päivi PISPA, Auteur ; Mika HELMINEN, Auteur ; Raili SALMELIN, Auteur ; Erja PELKONEN, Auteur ; P. JUUJARVI, Auteur ; Esther B. KESSLER, Auteur ; David H. SKUSE, Auteur Article en page(s) : p.154-166 Langues : Anglais (eng) Mots-clés : autism severity autism spectrum disorder cooperation reactive aggression gender-differences children oxytocin behavior adolescents evolution competition prevalence trust Psychology Index. décimale : PER Périodiques Résumé : Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder-related social impairments. The participants performed a modified version of the Prisoner's Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively. Autism spectrum disorder severity-related Autism Diagnostic Interview-algorithm scores were ascertained by interviewing the parents of the participants with a semi-structured parental interview (Developmental, Dimensional and Diagnostic Interview). The results showed that albeit the boys with autism spectrum disorder were able to engage in reciprocation and cooperation regardless of their social impairments, their cooperativeness was positively associated with lower levels of reactive aggression and older age. Thus, strengthening inhibition mechanisms that regulate reactive aggression might make boys with autism spectrum disorder more likely to prefer mutual gain over self-interest in cooperation. En ligne : http://dx.doi.org/10.1177/1362361317726417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379
in Autism > 23-1 (January 2019) . - p.154-166[article] Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder [texte imprimé] / Miia KAARTINEN, Auteur ; Kaija PUURA, Auteur ; Päivi PISPA, Auteur ; Mika HELMINEN, Auteur ; Raili SALMELIN, Auteur ; Erja PELKONEN, Auteur ; P. JUUJARVI, Auteur ; Esther B. KESSLER, Auteur ; David H. SKUSE, Auteur . - p.154-166.
Langues : Anglais (eng)
in Autism > 23-1 (January 2019) . - p.154-166
Mots-clés : autism severity autism spectrum disorder cooperation reactive aggression gender-differences children oxytocin behavior adolescents evolution competition prevalence trust Psychology Index. décimale : PER Périodiques Résumé : Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder-related social impairments. The participants performed a modified version of the Prisoner's Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively. Autism spectrum disorder severity-related Autism Diagnostic Interview-algorithm scores were ascertained by interviewing the parents of the participants with a semi-structured parental interview (Developmental, Dimensional and Diagnostic Interview). The results showed that albeit the boys with autism spectrum disorder were able to engage in reciprocation and cooperation regardless of their social impairments, their cooperativeness was positively associated with lower levels of reactive aggression and older age. Thus, strengthening inhibition mechanisms that regulate reactive aggression might make boys with autism spectrum disorder more likely to prefer mutual gain over self-interest in cooperation. En ligne : http://dx.doi.org/10.1177/1362361317726417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=379 Autism spectrum disorder detection using variable frequency complex demodulation of the electroretinogram / Sultan Mohammad MANJUR ; Md Billal HOSSAIN ; Fernando MARMOLEJO-RAMOS ; Irene O. LEE ; David H. SKUSE ; Dorothy A. THOMPSON ; Paul A. CONSTABLE in Research in Autism Spectrum Disorders, 109 (November 2023)
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Titre : Autism spectrum disorder detection using variable frequency complex demodulation of the electroretinogram Type de document : texte imprimé Auteurs : Sultan Mohammad MANJUR, Auteur ; Md Billal HOSSAIN, Auteur ; Fernando MARMOLEJO-RAMOS, Auteur ; Irene O. LEE, Auteur ; David H. SKUSE, Auteur ; Dorothy A. THOMPSON, Auteur ; Paul A. CONSTABLE, Auteur Article en page(s) : 102258 Langues : Anglais (eng) Mots-clés : Electroretinogram Signal analysis Autism spectrum disorder Machine learning Index. décimale : PER Périodiques Résumé : The early diagnosis of neurodevelopmental conditions such as autism spectrum disorder (ASD), is an unmet need. One difficulty is the identification of a biological signal that relates to the ASD phenotype. The electroretinogram (ERG) waveform has been identified as a possible signal that could categorize neurological conditions such as ASD. The ERG waveform is derived from the electrical activity of photoreceptors and retinal neurons in response to a brief flash of light and provides an indirect 'window' into the central nervous system. Traditionally, the waveform is analyzed in the time-domain, but more recently time-frequency spectrum (TFS) analysis of ERG has been successfully carried out using discrete wavelet transformation (DWT) to characterize the morphological features of the signal. In this study, we propose the use of a high resolution TFS technique, namely variable frequency complex demodulation (VFCDM), to decompose the ERG waveform based on two signal flash strengths to build machine learning (ML) models to categorize ASD. ERG waveforms from N = 217 subjects (71 ASD, 146 control), at two different flash strengths, 446 and 113 Troland seconds (Td.s), from both right and left eyes were included. We analyzed the raw ERG waveforms using DWT and VFCDM. We computed features from the TFSs and trained ML models such as Random Forest, Gradient Boosting, Support Vector Machine to classify ASD from controls. ML models were validated using a subject independent validation strategy, and we found that the ML models with VFCDM features outperformed models using the DWT, achieving an area under the receiver operating characteristics curve of 0.90 (accuracy = 0.81, sensitivity = 0.85, specificity = 0.78). We found that the higher frequency range (80-300 Hz) included more relevant information for classifying ASD compared to the lower frequencies. We also found that the stronger flash strength of 446 Td.s in the right eye provided the best classification result which supports VFCDM analysis of the ERG waveform as a potential tool to aid in the identification of the ASD phenotype. En ligne : https://doi.org/10.1016/j.rasd.2023.102258 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=517
in Research in Autism Spectrum Disorders > 109 (November 2023) . - 102258[article] Autism spectrum disorder detection using variable frequency complex demodulation of the electroretinogram [texte imprimé] / Sultan Mohammad MANJUR, Auteur ; Md Billal HOSSAIN, Auteur ; Fernando MARMOLEJO-RAMOS, Auteur ; Irene O. LEE, Auteur ; David H. SKUSE, Auteur ; Dorothy A. THOMPSON, Auteur ; Paul A. CONSTABLE, Auteur . - 102258.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 109 (November 2023) . - 102258
Mots-clés : Electroretinogram Signal analysis Autism spectrum disorder Machine learning Index. décimale : PER Périodiques Résumé : The early diagnosis of neurodevelopmental conditions such as autism spectrum disorder (ASD), is an unmet need. One difficulty is the identification of a biological signal that relates to the ASD phenotype. The electroretinogram (ERG) waveform has been identified as a possible signal that could categorize neurological conditions such as ASD. The ERG waveform is derived from the electrical activity of photoreceptors and retinal neurons in response to a brief flash of light and provides an indirect 'window' into the central nervous system. Traditionally, the waveform is analyzed in the time-domain, but more recently time-frequency spectrum (TFS) analysis of ERG has been successfully carried out using discrete wavelet transformation (DWT) to characterize the morphological features of the signal. In this study, we propose the use of a high resolution TFS technique, namely variable frequency complex demodulation (VFCDM), to decompose the ERG waveform based on two signal flash strengths to build machine learning (ML) models to categorize ASD. ERG waveforms from N = 217 subjects (71 ASD, 146 control), at two different flash strengths, 446 and 113 Troland seconds (Td.s), from both right and left eyes were included. We analyzed the raw ERG waveforms using DWT and VFCDM. We computed features from the TFSs and trained ML models such as Random Forest, Gradient Boosting, Support Vector Machine to classify ASD from controls. ML models were validated using a subject independent validation strategy, and we found that the ML models with VFCDM features outperformed models using the DWT, achieving an area under the receiver operating characteristics curve of 0.90 (accuracy = 0.81, sensitivity = 0.85, specificity = 0.78). We found that the higher frequency range (80-300 Hz) included more relevant information for classifying ASD compared to the lower frequencies. We also found that the stronger flash strength of 446 Td.s in the right eye provided the best classification result which supports VFCDM analysis of the ERG waveform as a potential tool to aid in the identification of the ASD phenotype. En ligne : https://doi.org/10.1016/j.rasd.2023.102258 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=517 Behavioural and neurodevelopmental characteristics of SYNGAP1 / Nadja BEDNARCZUK in Journal of Neurodevelopmental Disorders, 16 (2024)
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Titre : Behavioural and neurodevelopmental characteristics of SYNGAP1 Type de document : texte imprimé Auteurs : Nadja BEDNARCZUK, Auteur ; Harriet HOUSBY, Auteur ; Irene O. LEE, Auteur ; Imagine CONSORTIUM, Auteur ; David SKUSE, Auteur ; Jeanne WOLSTENCROFT, Auteur Langues : Anglais (eng) Mots-clés : Humans Female ras GTPase-Activating Proteins/genetics Male Child Adolescent Child, Preschool Intellectual Disability/genetics/etiology Developmental Disabilities/genetics/etiology United Kingdom Neurodevelopmental Disorders/genetics Cohort Studies Phenotype Epilepsy/genetics Seizures/genetics Autism Behaviour Intellectual Disability Neurodevelopment Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID. METHODS: Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4-16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires. RESULTS: Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15). CONCLUSION: For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management. En ligne : https://dx.doi.org/10.1186/s11689-024-09563-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575
in Journal of Neurodevelopmental Disorders > 16 (2024)[article] Behavioural and neurodevelopmental characteristics of SYNGAP1 [texte imprimé] / Nadja BEDNARCZUK, Auteur ; Harriet HOUSBY, Auteur ; Irene O. LEE, Auteur ; Imagine CONSORTIUM, Auteur ; David SKUSE, Auteur ; Jeanne WOLSTENCROFT, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 16 (2024)
Mots-clés : Humans Female ras GTPase-Activating Proteins/genetics Male Child Adolescent Child, Preschool Intellectual Disability/genetics/etiology Developmental Disabilities/genetics/etiology United Kingdom Neurodevelopmental Disorders/genetics Cohort Studies Phenotype Epilepsy/genetics Seizures/genetics Autism Behaviour Intellectual Disability Neurodevelopment Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID. METHODS: Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4-16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires. RESULTS: Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15). CONCLUSION: For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management. En ligne : https://dx.doi.org/10.1186/s11689-024-09563-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 Behavioural Neuroscience and Child Psychopathology: Insights from Model Systems / David H. SKUSE in Journal of Child Psychology and Psychiatry, 41-1 (January 2000)
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Titre : Behavioural Neuroscience and Child Psychopathology: Insights from Model Systems Type de document : texte imprimé Auteurs : David H. SKUSE, Auteur Année de publication : 2000 Article en page(s) : p.3-31 Langues : Anglais (eng) Mots-clés : Behavioural neuroscience neurogenetics model systems Drosophila melanogaster Caenorhabditis elegans laboratory mouse Index. décimale : PER Périodiques Résumé : We have just emerged from “the Decade of the Brain”, yet in so many ways it was the “Decade of the Genome”. What relevance does the remarkable advance in knowledge in genetics and neuroscience over that period have to our understanding of child psychopathology? When the complexity of the genetic systems involved in behavioural regulation of relatively simple organisms such as the nematode worm Caenorhabditis elegans or the fruitfly Drosophila melanogaster is considered, the possibility of comprehending the links from genes to behaviour in the developing child seems remote. Yet, the principles of investigation in model systems are not so different to those that should apply in humans. This review draws out the parallels, and introduces recent findings from behavioural studies of C. elegans, D. melanogaster, and the laboratory mouse, as well as humans, to illustrate the point. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=125
in Journal of Child Psychology and Psychiatry > 41-1 (January 2000) . - p.3-31[article] Behavioural Neuroscience and Child Psychopathology: Insights from Model Systems [texte imprimé] / David H. SKUSE, Auteur . - 2000 . - p.3-31.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 41-1 (January 2000) . - p.3-31
Mots-clés : Behavioural neuroscience neurogenetics model systems Drosophila melanogaster Caenorhabditis elegans laboratory mouse Index. décimale : PER Périodiques Résumé : We have just emerged from “the Decade of the Brain”, yet in so many ways it was the “Decade of the Genome”. What relevance does the remarkable advance in knowledge in genetics and neuroscience over that period have to our understanding of child psychopathology? When the complexity of the genetic systems involved in behavioural regulation of relatively simple organisms such as the nematode worm Caenorhabditis elegans or the fruitfly Drosophila melanogaster is considered, the possibility of comprehending the links from genes to behaviour in the developing child seems remote. Yet, the principles of investigation in model systems are not so different to those that should apply in humans. This review draws out the parallels, and introduces recent findings from behavioural studies of C. elegans, D. melanogaster, and the laboratory mouse, as well as humans, to illustrate the point. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=125 Brief Report: Perception of Genuine and Posed Smiles by Individuals with Autism / Zillah L. BORASTON in Journal of Autism and Developmental Disorders, 38-3 (March 2008)
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PermalinkCan autistic children read the mind of an animated triangle? / Gemma SALTER in Autism, 12-4 (July 2008)
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PermalinkA Case-comparison Study of the Characteristics of Children with a Short Stature Syndrome Induced by Stress (Hyperphagic Short Stature) and a Consecutive Series of Unaffected “Stressed” Children / Jane GILMOUR in Journal of Child Psychology and Psychiatry, 40-6 (September 1999)
PermalinkCharacteristics and Management of Feeding Problems of Young Children with Cerebral Palsy / Sheena REILLY in Developmental Medicine & Child Neurology, 34-5 (May 1992)
PermalinkDetecting Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Using Multimodal Time-Frequency Analysis with Machine Learning Using the Electroretinogram from Two Flash Strengths / Sultan Mohammad MANJUR in Journal of Autism and Developmental Disorders, 55-4 (April 2024)
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PermalinkEasing the transition to secondary education for children with autism spectrum disorder: An evaluation of the Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD) / William MANDY in Autism, 20-5 (July 2016)
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