Parent-Reported Developmental Regression in Autism: Epilepsy, IQ, Schizophrenia Spectrum Symptoms, and Special Education

Gadow, Kenneth D.; Weber, Rebecca J.

doi:10.1007/s10803-016-3004-1

Cited by 29 publications

(31 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Regression has long been recognized in neurodevelopmental disorders such as ASD [37], but the triggers and mechanisms are not well understood, and the literature focuses largely on early childhood regression, especially as it relates to Rett syndrome [37][38][39][40]. Significant cognitive and behavioral regression has been documented in PMS [5,6,9,15,16,18,41].…”

Section: Discussionmentioning

confidence: 99%

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Kohlenberg

Trelles

McLarney

et al. 2020

J Neurodevelop Disord

View full text Add to dashboard Cite

Background: Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding protein in excitatory synapses. SHANK3 variants are also known to be associated with an increased risk for regression, as well as for psychiatric disorders, including bipolar disorder and catatonia. This study aimed to further describe these phenomena in PMS and to explore any relationship between psychiatric illness and regression after early childhood. Methods: Thirty-eight people with PMS were recruited to this study through the Phelan-McDermid Syndrome Foundation based on caregiver report of distinct development of psychiatric symptoms. Caregivers completed a clinician-administered semi-structured interview focused on eliciting psychiatric symptomatology. Data from the PMS International Registry were used to confirm genetic diagnoses of participants and to provide a larger sample for comparison. Results: The mean age of the 38 participants was 24.7 years (range = 13 to 50; SD = 10.06). Females (31 of 38 cases; 82%) and sequence variants (15 of 38 cases; 39%) were over-represented in this sample, compared to base rates in the PMS International Registry. Onset of psychiatric symptoms occurred at a mean age of 15.4 years (range = 7 to 32), with presentations marked by prominent disturbances of mood. Enduring substantial loss of functional skills after onset of psychiatric changes was seen in 25 cases (66%). Symptomst indicative of catatonia occurred in 20 cases (53%). Triggers included infections, changes in hormonal status, and stressful life events. Conclusions: This study confirms that individuals with PMS are at risk of developing severe neuropsychiatric illness in adolescence or early adulthood, including bipolar disorder, catatonia, and lasting regression of skills. These findings should increase the awareness of these phenotypes and lead to earlier diagnosis and the implementation of appropriate interventions. Our findings also highlight the importance of genetic testing in the work-up of individuals with intellectual disability and acute psychiatric illness or regression. Future research is needed to clarify the prevalence and nature of psychiatric disorders and regression among larger unbiased samples of individuals with PMS.

show abstract

Section: Discussionmentioning

confidence: 99%

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Kohlenberg

Trelles

McLarney

et al. 2020

J Neurodevelop Disord

View full text Add to dashboard Cite

show abstract

“…Some reviews suggest that, after regression, CDD is ‘essentially identical’ to ASD: phenotypic similarities include both core social‐communication impairments and comorbid intellectual disability and epilepsy . Further, regression, a salient feature of CDD, has also been described in ASD, including in prospective longitudinal studies . A meta‐analysis of 29 035 participants with ASD found a 32% prevalence of regression of developmental and/or adaptive skills …”

mentioning

confidence: 99%

“…10 Further, regression, a salient feature of CDD, has also been described in ASD, including in prospective longitudinal studies. [11][12][13][14] A meta-analysis of 29 035 participants with ASD found a 32% prevalence of regression of developmental and/or adaptive skills. 15 However, there are several key differences between CDD and ASD both in symptom profile and in pattern of regression.…”

mentioning

confidence: 99%

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Mehra

Sil

Hedderly

et al. 2018

Develop Med Child Neuro

View full text Add to dashboard Cite

Aim In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD). Method Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision. Comparison groups were those with ASD and ASD with regression. Case studies were excluded. Results Twenty articles, comprising 96 participants with CDD (80 males, 16 females), were included. Most studies were cross‐sectional. The prevalence of CDD was 1.1 to 9.2 per 100 000, with a mean age at regression of 3 years 2 months (SD 1y 1mo), with a range of 2 years to 7 years. In addition to core CDD symptoms, most had intellectual impairment, anxiety, challenging behaviours, and regressed in toileting skills. Participants with CDD and ASD shared core diagnostic and extra‐diagnostic features. However, participants with CDD seemed to have more severe symptoms and a different symptom profile, including apparently typical development before regression, faster regression, more affective symptoms, and more global developmental deficit. Possible genetic and autoimmune neurobiological mechanisms were identified. Interpretation There is limited high‐quality evidence describing the aetiology and outcomes of CDD. However, given the qualitative and prognostic differences between ASD and CDD, we recommend that future diagnostic criteria should distinguish late‐onset regression.

show abstract

“…After identifying the six LCs, we explored characteristics of the children and their families within the distinct subgroups. Because parent‐reported developmental regression is associated with varying phenotypes among children with ASD [e.g., Baird et al, ; Gadow et al, ; Goin‐Kochel et al, ] and parental perceptions about etiology of ASD [e.g., Goin‐Kochel & Myers, ; Goin‐Kochel et al, ], we were particularly interested in whether parents' endorsement of skill loss may affect treatments pursued. In the LCs identified, families whose children experienced any type of skill loss were indeed more likely to fall into certain LCs (i.e., “High Utilizers” and “School‐Plus” classes).…”

Section: Discussionmentioning

confidence: 99%

“…At the same time, the observation of the regression may influence parents' selection of particular treatments, with the goal of regaining those lost abilities; this may be related to or predictive of (i.e., “set the stage for”) subsequent treatment decisions. Studies have demonstrated lower cognitive and adaptive functioning [Goin‐Kochel, Esler, Kanne, & Hus, ], greater ASD symptom severity [Baird et al, ], and more later‐emerging psychiatric symptoms [Gadow, Perlman, & Weber, ] among individuals with ASD and a history of regression (ASD + regression) compared to those without regression (ASD – regression). Given this, there may be important differences in the types of treatments used and patterns of treatment selection among parents who have witnessed a skill loss in their child with ASD.…”

Section: Using Latent Class Analysis To Identify Treatment‐use Subgromentioning

confidence: 99%

Using latent class analysis to identify treatment‐use subgroups among parents of children with autism spectrum disorder

et al. 2019

View full text Add to dashboard Cite

Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptivefunctioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Res 2019, 12: 843-854.Lay Summary: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies.

show abstract

Parent-Reported Developmental Regression in Autism: Epilepsy, IQ, Schizophrenia Spectrum Symptoms, and Special Education

Cited by 29 publications

References 41 publications

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Using latent class analysis to identify treatment‐use subgroups among parents of children with autism spectrum disorder

Contact Info

Product

Resources

About