Brief Report: An Unusual Manifestation of Diagnostic Overshadowing of Pervasive Developmental Disorder—Not Otherwise Specified: A Five Year Longitudinal Case Study / S. S. MEERA in Journal of Autism and Developmental Disorders, 43-6 (June 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-6 (June 2013) . - p.1491-1494 Titre : Brief Report: An Unusual Manifestation of Diagnostic Overshadowing of Pervasive Developmental Disorder—Not Otherwise Specified: A Five Year Longitudinal Case Study Type de document : Texte imprimé et/ou numérique Auteurs : S. S. MEERA, Auteur ; Ramesh KAIPA, Auteur ; Jaslin THOMAS, Auteur ; N. SHIVASHANKAR, Auteur Article en page(s) : p.1491-1494 Langues : Anglais (eng) Mots-clés : Diagnostic overshadowing  Separation anxiety disorder  Pervasive developmental disorder  Speech language pathologist  Follow-up Index. décimale : PER Périodiques Résumé : Children with communication disorders present with a range of comorbid conditions. Occasionally one of the comorbid conditions manifests so strongly that the primary condition goes unnoticed by the clinician. This tendency to overlook comorbid health problems in the presence of a disability is referred to as diagnostic overshadowing. This is a five-year follow up case study of a 9-year-old female child. The child was initially diagnosed to have Separation Anxiety Disorder (SAD), but during the course of follow up she began to exhibit features of pervasive developmental disorder-not otherwise specified (PDD-NOS). This case report throws light on the severity of SAD which overshadowed PDD-NOS. Importance of follow-up and the need for a multidisciplinary team to be sensitive to the phenomenon of diagnostic overshadowing is discussed. En ligne : http://dx.doi.org/10.1007/s10803-012-1691-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 [article] Brief Report: An Unusual Manifestation of Diagnostic Overshadowing of Pervasive Developmental Disorder—Not Otherwise Specified: A Five Year Longitudinal Case Study [Texte imprimé et/ou numérique] / S. S. MEERA, Auteur ; Ramesh KAIPA, Auteur ; Jaslin THOMAS, Auteur ; N. SHIVASHANKAR, Auteur . - p.1491-1494. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-6 (June 2013) . - p.1491-1494 Mots-clés : Diagnostic overshadowing  Separation anxiety disorder  Pervasive developmental disorder  Speech language pathologist  Follow-up Index. décimale : PER Périodiques Résumé : Children with communication disorders present with a range of comorbid conditions. Occasionally one of the comorbid conditions manifests so strongly that the primary condition goes unnoticed by the clinician. This tendency to overlook comorbid health problems in the presence of a disability is referred to as diagnostic overshadowing. This is a five-year follow up case study of a 9-year-old female child. The child was initially diagnosed to have Separation Anxiety Disorder (SAD), but during the course of follow up she began to exhibit features of pervasive developmental disorder-not otherwise specified (PDD-NOS). This case report throws light on the severity of SAD which overshadowed PDD-NOS. Importance of follow-up and the need for a multidisciplinary team to be sensitive to the phenomenon of diagnostic overshadowing is discussed. En ligne : http://dx.doi.org/10.1007/s10803-012-1691-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201

Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data-driven approach / B. TUNC in Journal of Child Psychology and Psychiatry, 62-10 (October 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-10 (October 2021) . - p.1236-1245 Titre : Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data-driven approach Type de document : Texte imprimé et/ou numérique Auteurs : B. TUNC, Auteur ; J. PANDEY, Auteur ; T. ST JOHN, Auteur ; S. S. MEERA, Auteur ; J. E. MALDARELLI, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Heather C. HAZLETT, Auteur ; Stephen R. DAGER, Auteur ; Kelly N. BOTTERON, Auteur ; J. B. GIRAULT, Auteur ; R. C. MCKINSTRY, Auteur ; R. VERMA, Auteur ; J. T. ELISON, Auteur ; J. R. PRUETT, Auteur ; J. PIVEN, Auteur ; A. M. ESTES, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : p.1236-1245 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Child, Preschool  Cohort Studies  Early Diagnosis  Humans  Phenotype  Siblings  Autism spectrum disorders  diagnosis  infancy  machine learning  stability  interest Index. décimale : PER Périodiques Résumé : BACKGROUND: Diagnostic shifts at early ages may provide invaluable insights into the nature of separation between autism spectrum disorder (ASD) and typical development. Recent conceptualizations of ASD suggest the condition is only fuzzily separated from non-ASD, with intermediate cases between the two. These intermediate cases may shift along a transition region over time, leading to apparent instability of diagnosis. METHODS: We used a cohort of children with high ASD risk, by virtue of having an older sibling with ASD, assessed at 24 months (N = 212) and 36 months (N = 191). We applied machine learning to empirically characterize the classification boundary between ASD and non-ASD, using variables quantifying developmental and adaptive skills. We computed the distance of children to the classification boundary. RESULTS: Children who switched diagnostic labels from 24 to 36 months, in both directions, (dynamic group) had intermediate phenotypic profiles. They were closer to the classification boundary compared to children who had stable diagnoses, both at 24 months (Cohen's d = .52) and at 36 months (d = .75). The magnitude of change in distance between the two time points was similar for the dynamic and stable groups (Cohen's d = .06), and diagnostic shifts were not associated with a large change. At the individual level, a few children in the dynamic group showed substantial change. CONCLUSIONS: Our results suggested that a diagnostic shift was largely due to a slight movement within a transition region between ASD and non-ASD. This fact highlights the need for more vigilant surveillance and intervention strategies. Young children with intermediate phenotypes may have an increased susceptibility to gain or lose their diagnosis at later ages, calling attention to the inherently dynamic nature of early ASD diagnoses. En ligne : http://dx.doi.org/10.1111/jcpp.13406 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data-driven approach [Texte imprimé et/ou numérique] / B. TUNC, Auteur ; J. PANDEY, Auteur ; T. ST JOHN, Auteur ; S. S. MEERA, Auteur ; J. E. MALDARELLI, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Heather C. HAZLETT, Auteur ; Stephen R. DAGER, Auteur ; Kelly N. BOTTERON, Auteur ; J. B. GIRAULT, Auteur ; R. C. MCKINSTRY, Auteur ; R. VERMA, Auteur ; J. T. ELISON, Auteur ; J. R. PRUETT, Auteur ; J. PIVEN, Auteur ; A. M. ESTES, Auteur ; Robert T. SCHULTZ, Auteur . - p.1236-1245. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-10 (October 2021) . - p.1236-1245 Mots-clés : Autism Spectrum Disorder/diagnosis  Child, Preschool  Cohort Studies  Early Diagnosis  Humans  Phenotype  Siblings  Autism spectrum disorders  diagnosis  infancy  machine learning  stability  interest Index. décimale : PER Périodiques Résumé : BACKGROUND: Diagnostic shifts at early ages may provide invaluable insights into the nature of separation between autism spectrum disorder (ASD) and typical development. Recent conceptualizations of ASD suggest the condition is only fuzzily separated from non-ASD, with intermediate cases between the two. These intermediate cases may shift along a transition region over time, leading to apparent instability of diagnosis. METHODS: We used a cohort of children with high ASD risk, by virtue of having an older sibling with ASD, assessed at 24 months (N = 212) and 36 months (N = 191). We applied machine learning to empirically characterize the classification boundary between ASD and non-ASD, using variables quantifying developmental and adaptive skills. We computed the distance of children to the classification boundary. RESULTS: Children who switched diagnostic labels from 24 to 36 months, in both directions, (dynamic group) had intermediate phenotypic profiles. They were closer to the classification boundary compared to children who had stable diagnoses, both at 24 months (Cohen's d = .52) and at 36 months (d = .75). The magnitude of change in distance between the two time points was similar for the dynamic and stable groups (Cohen's d = .06), and diagnostic shifts were not associated with a large change. At the individual level, a few children in the dynamic group showed substantial change. CONCLUSIONS: Our results suggested that a diagnostic shift was largely due to a slight movement within a transition region between ASD and non-ASD. This fact highlights the need for more vigilant surveillance and intervention strategies. Young children with intermediate phenotypes may have an increased susceptibility to gain or lose their diagnosis at later ages, calling attention to the inherently dynamic nature of early ASD diagnoses. En ligne : http://dx.doi.org/10.1111/jcpp.13406 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Early language exposure supports later language skills in infants with and without autism / M. R. SWANSON in Autism Research, 12-12 (December)  

Public ISBD [article]  inAutism Research > 12-12 (December) . - p.1784-1795 Titre : Early language exposure supports later language skills in infants with and without autism Type de document : Texte imprimé et/ou numérique Auteurs : M. R. SWANSON, Auteur ; K. DONOVAN, Auteur ; S. PATERSON, Auteur ; J. J. WOLFF, Auteur ; Julia PARISH-MORRIS, Auteur ; S. S. MEERA, Auteur ; Linda R. WATSON, Auteur ; A. M. ESTES, Auteur ; N. MARRUS, Auteur ; J. T. ELISON, Auteur ; M. D. SHEN, Auteur ; H. B. MCNEILLY, Auteur ; L. MACINTYRE, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; T. ST JOHN, Auteur ; Kelly N. BOTTERON, Auteur ; Stephen R. DAGER, Auteur ; J. PIVEN, Auteur Année de publication : 2019 Article en page(s) : p.1784-1795 Langues : Anglais (eng) Mots-clés : Asd  caregiver speech  high familial risk  home language environment  infancy  language  socioeconomic status Index. décimale : PER Périodiques Résumé : The way that parents communicate with their typically developing infants is associated with later infant language development. Here we aim to show that these associations are observed in infants subsequently diagnosed with autism spectrum disorder (ASD). This study had three groups: high-familial-risk infants who did not have ASD (n = 46); high-familial-risk infants who had ASD (n = 14); and low-familial-risk infants who exhibited typical development (n = 36). All-day home language recordings were collected at 9 and 15 months, and language skills were assessed at 24 months. Across all infants in the study, including those with ASD, a richer home language environment (e.g., hearing more adult words and experiencing more conversational turns) at 9 and 15 months was associated with better language skills. Higher parental educational attainment was associated with a richer home language environment. Mediation analyses showed that the effect of education on child language skills was explained by the richness of the home language environment. Exploratory analyses revealed that typically developing infants experience an increase in caregiver-child conversational turns across 9-15 months, a pattern not seen in children with ASD. The current study shows that parent behavior during the earliest stages of life can have a significant impact on later development, highlighting the home language environment as means to support development in infants with ASD. Autism Res 2019, 12: 1784-1795. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: It has long been understood that caregiver speech supports language skills in typically developing infants. In this study, parents of infants who were later diagnosed with ASD and parents of infants in the control groups completed all-day home language recordings. We found that for all infants in our study, those who heard more caregiver speech had better language skills later in life. Parental education level was also related to how much caregiver speech an infant experienced. En ligne : http://dx.doi.org/10.1002/aur.2163 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=413 [article] Early language exposure supports later language skills in infants with and without autism [Texte imprimé et/ou numérique] / M. R. SWANSON, Auteur ; K. DONOVAN, Auteur ; S. PATERSON, Auteur ; J. J. WOLFF, Auteur ; Julia PARISH-MORRIS, Auteur ; S. S. MEERA, Auteur ; Linda R. WATSON, Auteur ; A. M. ESTES, Auteur ; N. MARRUS, Auteur ; J. T. ELISON, Auteur ; M. D. SHEN, Auteur ; H. B. MCNEILLY, Auteur ; L. MACINTYRE, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; T. ST JOHN, Auteur ; Kelly N. BOTTERON, Auteur ; Stephen R. DAGER, Auteur ; J. PIVEN, Auteur . - 2019 . - p.1784-1795. Langues : Anglais (eng) in Autism Research > 12-12 (December) . - p.1784-1795 Mots-clés : Asd  caregiver speech  high familial risk  home language environment  infancy  language  socioeconomic status Index. décimale : PER Périodiques Résumé : The way that parents communicate with their typically developing infants is associated with later infant language development. Here we aim to show that these associations are observed in infants subsequently diagnosed with autism spectrum disorder (ASD). This study had three groups: high-familial-risk infants who did not have ASD (n = 46); high-familial-risk infants who had ASD (n = 14); and low-familial-risk infants who exhibited typical development (n = 36). All-day home language recordings were collected at 9 and 15 months, and language skills were assessed at 24 months. Across all infants in the study, including those with ASD, a richer home language environment (e.g., hearing more adult words and experiencing more conversational turns) at 9 and 15 months was associated with better language skills. Higher parental educational attainment was associated with a richer home language environment. Mediation analyses showed that the effect of education on child language skills was explained by the richness of the home language environment. Exploratory analyses revealed that typically developing infants experience an increase in caregiver-child conversational turns across 9-15 months, a pattern not seen in children with ASD. The current study shows that parent behavior during the earliest stages of life can have a significant impact on later development, highlighting the home language environment as means to support development in infants with ASD. Autism Res 2019, 12: 1784-1795. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: It has long been understood that caregiver speech supports language skills in typically developing infants. In this study, parents of infants who were later diagnosed with ASD and parents of infants in the control groups completed all-day home language recordings. We found that for all infants in our study, those who heard more caregiver speech had better language skills later in life. Parental education level was also related to how much caregiver speech an infant experienced. En ligne : http://dx.doi.org/10.1002/aur.2163 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=413

Infants later diagnosed with autism have lower canonical babbling ratios in the first year of life / L. D. YANKOWITZ in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 28 p. Titre : Infants later diagnosed with autism have lower canonical babbling ratios in the first year of life Type de document : Texte imprimé et/ou numérique Auteurs : L. D. YANKOWITZ, Auteur ; V. PETRULLA, Auteur ; S. PLATE, Auteur ; B. TUNC, Auteur ; W. GUTHRIE, Auteur ; S. S. MEERA, Auteur ; K. TENA, Auteur ; J. PANDEY, Auteur ; M. R. SWANSON, Auteur ; J. R. Jr PRUETT, Auteur ; M. COLA, Auteur ; A. RUSSELL, Auteur ; N. MARRUS, Auteur ; Heather C. HAZLETT, Auteur ; K. BOTTERON, Auteur ; J. N. CONSTANTINO, Auteur ; Stephen R. DAGER, Auteur ; A. ESTES, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; J. PIVEN, Auteur ; Robert T. SCHULTZ, Auteur ; Julia PARISH-MORRIS, Auteur Article en page(s) : 28 p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Humans  Infant  Language Development Disorders/diagnosis  Longitudinal Studies  Reproducibility of Results Index. décimale : PER Périodiques Résumé : BACKGROUND: Canonical babbling-producing syllables with a mature consonant, full vowel, and smooth transition-is an important developmental milestone that typically occurs in the first year of life. Some studies indicate delayed or reduced canonical babbling in infants at high familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis, but evidence is mixed. More refined characterization of babbling in the first year of life in infants with high likelihood for ASD is needed. METHODS: Vocalizations produced at 6 and 12 months by infants (n=267) taking part in a longitudinal study were coded for canonical and non-canonical syllables. Infants were categorized as low familial likelihood (LL), high familial likelihood diagnosed with ASD at 24 months (HL-ASD) or not diagnosed (HL-Neg). Language delay was assessed based on 24-month expressive and receptive language scores. Canonical babble ratio (CBR) was calculated by dividing the number of canonical syllables by the number of total syllables. Generalized linear (mixed) models were used to assess the relationship between group membership and CBR, controlling for site, sex, and maternal education. Logistic regression was used to assess whether canonical babbling ratios at 6 and 12 months predict 24-month diagnostic outcome. RESULTS: No diagnostic group differences in CBR were detected at 6 months, but HL-ASD infants produced significantly lower CBR than both the HL-Neg and LL groups at 12 months. HL-Neg infants with language delay also showed reduced CBR at 12 months. Neither 6- nor 12-month CBR was significant predictors of 24-month diagnostic outcome (ASD versus no ASD) in logistic regression. LIMITATIONS: Small numbers of vocalizations produced by infants at 6 months may limit the reliability of CBR estimates. It is not known if results generalize to infants who are not at high familial likelihood, or infants from more diverse racial and socioeconomic backgrounds. CONCLUSIONS: Lower canonical babbling ratios are apparent by the end of the first year of life in ASD regardless of later language delay, but are also observed for infants with later language delay without ASD. Canonical babbling may lack specificity as an early marker when used on its own. En ligne : http://dx.doi.org/10.1186/s13229-022-00503-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] Infants later diagnosed with autism have lower canonical babbling ratios in the first year of life [Texte imprimé et/ou numérique] / L. D. YANKOWITZ, Auteur ; V. PETRULLA, Auteur ; S. PLATE, Auteur ; B. TUNC, Auteur ; W. GUTHRIE, Auteur ; S. S. MEERA, Auteur ; K. TENA, Auteur ; J. PANDEY, Auteur ; M. R. SWANSON, Auteur ; J. R. Jr PRUETT, Auteur ; M. COLA, Auteur ; A. RUSSELL, Auteur ; N. MARRUS, Auteur ; Heather C. HAZLETT, Auteur ; K. BOTTERON, Auteur ; J. N. CONSTANTINO, Auteur ; Stephen R. DAGER, Auteur ; A. ESTES, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; J. PIVEN, Auteur ; Robert T. SCHULTZ, Auteur ; Julia PARISH-MORRIS, Auteur . - 28 p. Langues : Anglais (eng) in Molecular Autism > 13 (2022) . - 28 p. Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Humans  Infant  Language Development Disorders/diagnosis  Longitudinal Studies  Reproducibility of Results Index. décimale : PER Périodiques Résumé : BACKGROUND: Canonical babbling-producing syllables with a mature consonant, full vowel, and smooth transition-is an important developmental milestone that typically occurs in the first year of life. Some studies indicate delayed or reduced canonical babbling in infants at high familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis, but evidence is mixed. More refined characterization of babbling in the first year of life in infants with high likelihood for ASD is needed. METHODS: Vocalizations produced at 6 and 12 months by infants (n=267) taking part in a longitudinal study were coded for canonical and non-canonical syllables. Infants were categorized as low familial likelihood (LL), high familial likelihood diagnosed with ASD at 24 months (HL-ASD) or not diagnosed (HL-Neg). Language delay was assessed based on 24-month expressive and receptive language scores. Canonical babble ratio (CBR) was calculated by dividing the number of canonical syllables by the number of total syllables. Generalized linear (mixed) models were used to assess the relationship between group membership and CBR, controlling for site, sex, and maternal education. Logistic regression was used to assess whether canonical babbling ratios at 6 and 12 months predict 24-month diagnostic outcome. RESULTS: No diagnostic group differences in CBR were detected at 6 months, but HL-ASD infants produced significantly lower CBR than both the HL-Neg and LL groups at 12 months. HL-Neg infants with language delay also showed reduced CBR at 12 months. Neither 6- nor 12-month CBR was significant predictors of 24-month diagnostic outcome (ASD versus no ASD) in logistic regression. LIMITATIONS: Small numbers of vocalizations produced by infants at 6 months may limit the reliability of CBR estimates. It is not known if results generalize to infants who are not at high familial likelihood, or infants from more diverse racial and socioeconomic backgrounds. CONCLUSIONS: Lower canonical babbling ratios are apparent by the end of the first year of life in ASD regardless of later language delay, but are also observed for infants with later language delay without ASD. Canonical babbling may lack specificity as an early marker when used on its own. En ligne : http://dx.doi.org/10.1186/s13229-022-00503-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

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