Developmental Pediatrics Research

Adaptive behavior and its differences between children with autism spectrum disorder and social communication disorder

Autism Journal, a Sage publication

DOI: 10.1177/13623613251317787

PMID: 39943881

Deepika Jain and others

This study compared adaptive behavior skills between children with autism spectrum disorder and social communication disorder using the Vineland Adaptive Behavior Scale-III. The researchers analyzed data from 131 children matched for gender, cognitive level, and age across communication disorder. Key findings showed that children with social communication disorder demonstrated significantly better adaptive functioning across all areas compared to those with autism spectrum disorder. The largest differences were seen in communication and social skills. However, both groups still showed impairments compared to typical development, especially in expressive language. The study also found that younger children with lower overall adaptive behavior scores were more likely to be diagnosed with autism spectrum disorder. In addition, there was a higher proportion of males in the social communication disorder group than the autism spectrum disorder group. These results highlight important differences between autism spectrum disorder and social communication disorder, emphasizing the need for comprehensive adaptive behavior assessment during diagnosis. The findings underscore the importance of early identification and targeted support may be particularly crucial for children with autism spectrum disorder.

Parental concern level and priority in goal making for toilet training in ASD

European Academy of Childhood Disability (EACD) Conference - Bruges, Belgium

Dr. Deepika Jain and others

This platform presentation examines the relationship between parental concern levels and goal-setting priorities specifically for toilet training interventions in children with Autism Spectrum Disorder. The study involved 45 parents of children with ASD aged 3-8 years who were not toilet trained. Parents completed questionnaires assessing their level of concern about toilet training and their priorities for intervention goals. Results showed that parental concern about toilet training was significantly correlated with placing it as a high-priority goal for intervention. Parents who reported higher stress levels related to managing toileting issues were more likely to prioritize toilet training over other developmental goals. The research highlights the importance of aligning therapeutic approaches with parental priorities to enhance intervention outcomes and family quality of life. This presentation contributes to the understanding of family-centered care approaches in autism intervention, emphasizing the need to consider parental perspectives and concerns when developing individualized treatment plans.

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

BMC Neurology

DOI: 10.1186/s12883-023-03065-1

Dr. Deepika Jain and others

This novel case report presents the fourth family globally with variants in the NEUROG1 gene associated with cranial dysinnervation phenotype, and the first report to present autism as an additional phenotype. The study describes two affected female siblings of Indian origin with a homozygous variant in the NEUROG1 gene. The proband, aged 6 years and 9 months, presented with global developmental delay, autism spectrum disorder, hearing loss, corneal opacity, no eye blinking, and cranial nerve abnormalities. Her younger sister, aged 4 years, was similarly affected. Both sisters showed deficits in social communication and interaction, deficits in non-verbal communication, perseverative interests, and stereotypy including hand flapping and body swaying. Whole exome sequencing revealed a novel homozygous, likely pathogenic, truncating frameshift variant, c.228_231dup (p.Thr78ProfsTer122) in exon 1 of the NEUROG1 gene. Segregation analysis confirmed both siblings as homozygotes and their parents as heterozygous carriers. This study provides a hypothetical framework explaining the pleiotropic effect of dysfunctional NEUROG1 protein leading to autism and posits it as a candidate for diagnosis of autism spectrum disorder with congenital cranial dysinnervation disorder.

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

BMC Neurology

DOI: 10.1186/s12883-023-03341-0

Dr. Deepika Jain and others

This comprehensive study presents the first systematic assessment of genetic architecture and molecular diagnostic yields for autism spectrum disorder (ASD) in India. The research recruited 101 patient-parent trios of Indian origin diagnosed with ASD according to DSM-5 criteria between 2020 and 2022. All probands underwent a sequential genetic testing pathway consisting of karyotyping, Fragile-X testing (in male probands), chromosomal microarray (CMA), and whole exome sequencing (WES). Results showed that no probands had gross chromosomal anomalies or Fragile-X syndrome. Three trios (2.9%) received confirmed genetic diagnosis from CMA, while 30 trios (29.7%) received diagnosis from WES. Among WES diagnoses, single nucleotide variants (SNVs) were detected in 27 cases (90%) and copy number variants (CNVs) in 3 cases (10%). Segregation analysis revealed 66.6% de novo variants and 16.6% recessive variants, consistent with non-Hispanic white/European ethnicity distributions. The MECP2 gene was the most recurrently mutated gene (n=6; 20%), with Rett syndrome being the most commonly detected disorder. Affected genes were primarily involved in synaptic formation, transcription regulation, ubiquitination, and chromatin remodeling. This study provides evidence supporting WES as a first-tier test for ASD genetic diagnosis in India, with significantly higher diagnostic yield compared to CMA.

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

BMC Pediatrics

DOI: 10.1186/s12887-023-03955-w

Dr. Deepika Jain and others

This comprehensive case report presents two cases of late infantile form of multiple sulfatase deficiency (MSD) from India, including the identification of a novel missense variant in the SUMF1 gene. Multiple sulfatase deficiency is a rare lysosomal storage disorder with an incidence of 1 in 1.4 million newborns, caused by pathogenic variants in the SUMF1 gene that encodes for formylglycine generating enzyme (FGE). The study describes two male children presenting with characteristic features including ichthyosis, speech regression, poor social response, and neurological abnormalities. Case 1, a 6-year-old male, presented with ichthyosis, irritability, poor social response, thinning of corpus callosum on MRI, and speech regression. Clinical suspicion of MSD was confirmed by enzyme analysis showing significantly reduced activities of arylsulfatase-A and arylsulfatase-B enzymes. Molecular analysis identified a novel homozygous missense variant c.860A>T (p.Asn287Ile) in exon 7 of the SUMF1 gene. Case 2, a 2.5-year-old male, presented with ichthyosis, leukodystrophy, and facial dysmorphism, with enzyme assays confirming MSD diagnosis. This study contributes valuable data to the limited literature on MSD cases from India, emphasizing the importance of genetic testing and accurate diagnosis in rare metabolic disorders.

A case of Pyridoxine Dependent Epilepsy, presenting with features of Autism Spectrum Disorder (ASD)

British Paediatric Neurology Association (BPNA) - Developmental Medicine & Child Neurology

Dr. Deepika Jain and others

This poster presentation at the British Paediatric Neurology Association (BPNA) 2022 documents a rare clinical case of Pyridoxine Dependent Epilepsy (PDE) that presented with features characteristic of Autism Spectrum Disorder (ASD). Pyridoxine Dependent Epilepsy is a rare genetic disorder that causes seizures requiring pyridoxine (vitamin B6) supplementation for control. This case highlights the complex overlap between metabolic disorders and neurodevelopmental presentations, emphasizing the critical importance of considering metabolic and genetic etiologies in the differential diagnosis of children presenting with ASD features, particularly when accompanied by seizures or other neurological symptoms. Early identification of such metabolic conditions is crucial as they may require specific treatments that can significantly improve outcomes.

Comparison Of Adaptive Level Profile In Different Domains Between Children With Autism Spectrum Disorder (ASD) & Social Communication Disorder (SCD)

AusACPDM/IAACD - 2022

Dr. Deepika Jain and others

This poster presentation at AusACPDM/IAACD 2022 provides a comprehensive comparison of adaptive functioning profiles across multiple developmental domains between children diagnosed with Autism Spectrum Disorder (ASD) and those with Social Communication Disorder (SCD). Social Communication Disorder is characterized by difficulties in the social use of verbal and nonverbal communication, while ASD includes these communication challenges plus restricted, repetitive patterns of behavior. This research systematically examines adaptive level differences across key functional domains including communication, socialization, daily living skills, and motor abilities. The findings reveal distinctive patterns of adaptive behavior that differentiate these two neurodevelopmental conditions, providing valuable insights that may inform differential diagnosis, treatment planning, and targeted intervention approaches tailored to each condition's specific profile.

Neurog1, A Novel Gene Associated With Global Developmental Delay, Oto-oculo Phenotype And Autism Spectrum Disorder

AusACPDM/IAACD - 2022

Dr. Deepika Jain and others

This poster presentation at AusACPDM/IAACD 2022 explores the association between the NEUROG1 gene and a complex phenotype characterized by global developmental delay, oto-oculo manifestations, and autism spectrum disorder. NEUROG1 (Neurogenin 1) is a gene that plays a critical role in neuronal development and differentiation. This research presents evidence for a novel genetic association, documenting how variants in the NEUROG1 gene contribute to a constellation of clinical features including neurodevelopmental delays, auditory-visual (oto-oculo) abnormalities, and autism spectrum disorder characteristics. The findings expand the understanding of the genetic architecture underlying neurodevelopmental disorders and highlight the importance of comprehensive genetic evaluation in children presenting with this specific phenotypic combination. This research contributes to improved diagnostic approaches and may inform future targeted therapeutic strategies.

Pairwise difference comparison between Receptive Language and Expressive Language skills to Interpersonal Relationship in children with Autism Spectrum Disorder

AusACPDM/IAACD - 2022

Dr. Deepika Jain and others

This poster presentation at AusACPDM/IAACD 2022 examines the complex relationships between receptive language skills, expressive language abilities, and interpersonal relationship development in children with Autism Spectrum Disorder (ASD). Through pairwise difference comparison analysis, the research systematically investigates how these three critical developmental domains interact and influence each other in children with ASD. The study identifies distinctive patterns of association and correlation between language abilities (both receptive and expressive) and social-interpersonal functioning. These findings provide valuable insights that may inform targeted language-focused intervention approaches, helping clinicians prioritize specific language skills that have the greatest impact on improving interpersonal relationships and social communication outcomes in children with autism.

Rett Syndrome in India: demographics, clinical features, and genetic profile of 6 Rett Syndrome cases as part of "Genetics in Autism" research study

Indian Journal of Developmental and Behavioral Pediatrics

Dr. Deepika Jain and others

This comprehensive journal publication presents detailed demographic data, clinical features, and genetic profiles of six Rett Syndrome cases identified as part of the "Genetics in Autism" research study conducted in India. Rett Syndrome is a rare genetic neurological disorder primarily affecting females, characterized by developmental regression, loss of purposeful hand skills, distinctive hand stereotypies, and often accompanied by seizures and autistic features. This study documents the demographic characteristics, clinical phenotypes, and genetic variants observed in the Indian population, contributing valuable data to the global understanding of Rett Syndrome epidemiology and presentation. The research provides insights into genotype-phenotype correlations specific to the Indian context, emphasizing the importance of genetic testing and accurate diagnosis. Findings highlight the clinical diversity of Rett Syndrome presentation and underscore the need for comprehensive genetic evaluation in children with developmental regression and autistic features.

A rare case of a male child with post-zygotic de novo mosaic variant c.538C>T in MECP2 gene: a case report of Rett syndrome

BMC Neurology - Journal Publication

DOI: 10.1186/s12883-021-02500-5

PMID: 34857007

Deepika Jain and others

This case report published in BMC Neurology describes an ultra-rare case of Rett syndrome in a male child with a post-zygotic de novo mosaic variant in the MECP2 gene. The patient, a 2 years 7 months old boy, presented with developmental regression, stereotypic hand movements, and autistic features consistent with Rett syndrome. Genetic analysis revealed a mosaic pathogenic variant c.538C>T (p.R180*) in the MECP2 gene, which to the best of our knowledge is exclusively seen in females and has never been reported in a male before. Typically, pathogenic MECP2 variants are lethal in males, but somatic mosaicism allowed for viability in this case. The study provides detailed clinical, genetic, and molecular findings, contributing to the understanding of atypical presentations of Rett syndrome, particularly in male patients. This is the first report of a mosaic male affected with RTT from India. The authors discuss the implications for genetic counseling and highlight the importance of considering Rett syndrome in the differential diagnosis for males with developmental regression and autistic features.

Adaptive Level Profile Differences Between Children With Autism Spectrum Disorder (ASD) And Social Communication Disorder (SCD) In Motor And Daily-living-skills (DLS) Domain

4th International Developmental Paediatrics Association Congress (IDPAC) - Arab Network for Early Childhood

Dr. Deepika Jain

This poster presentation at the 4th International Developmental Paediatrics Association Congress compares adaptive level profiles between children with Autism Spectrum Disorder (ASD) and Social Communication Disorder (SCD), specifically focusing on motor skills and daily living skills domains. The research identifies distinctive patterns that may aid in differential diagnosis and targeted intervention planning for these related but distinct neurodevelopmental conditions. The findings provide valuable insights into the specific areas of adaptive functioning that differentiate these two conditions.

Quantitative and qualitative adaptive level profiling at time of 1st diagnosis in children with autism spectrum disorder (ASD) to identify most affected functional domain

British Paediatric Neurology Association (BPNA) - 2021

Dr. Deepika Jain

This poster presentation at the British Paediatric Neurology Association (BPNA) 2021 describes a comprehensive approach to adaptive level profiling in children at the time of their first diagnosis with Autism Spectrum Disorder. The research employs both quantitative and qualitative methods to systematically identify the most significantly affected functional domains across multiple areas of development. By analyzing adaptive behavior patterns at the point of initial diagnosis, this study provides valuable insights for clinicians to prioritize intervention targets and develop individualized treatment plans that address the most critical needs of each child.

Comparison of adaptive level profile between children with autism spectrum disorder and social communication disorder in communication domain and Comparison of adaptive level profile in socialization domain between children with autism spectrum disorder and social communication disorder

European Academy of Childhood Disability (EACD) - Developmental Medicine & Child Neurology, Poland

Dr. Deepika Jain and others

These oral presentations at the European Academy of Childhood Disability (EACD) 2020 in Poland compare adaptive level profiles between children with Autism Spectrum Disorder (ASD) and Social Communication Disorder (SCD) across two critical domains: communication and socialization. The research identifies distinctive patterns of strengths and challenges in each group, providing insights that may inform differential diagnosis and targeted intervention approaches. The findings contribute to better understanding of the developmental profiles and adaptive functioning differences between these two neurodevelopmental conditions.

Comparison Of Adaptive Level Profiles Between Children With Autism Spectrum Disorder (ASD) And Social Communication Disorder (SCD)

Mean Age of Parental Concern in Children with ASD (Autism Spectrum Disorder) in a Western India Urban Center

IDPAC 2019, Philippines (Manila)

Dr. Deepika Jain and others

This paper presentation at IDPAC 2019 provides a comprehensive comparison of adaptive level profiles across multiple domains between children diagnosed with ASD and those with SCD. Social Communication disorder (SCD) is a new addition in DSM- V, characterized by difficulty in use of verbal and non- verbal communication for social interactions. Children with Autism Spectrum Disorder (ASD) will have repetitive behavior and/or restrictive interests along with social communication delay. This study examines the adaptive level differences between the two groups. The study indicates differences between mean adaptive level percentile and standard score in children with ASD and SCD in Communication and Socialization domain. SCD being a fairly new diagnosis needs to be studied in depth so that treatment modalities can be developed.

Professional of the month feature in "The Mind's Eye" newsletter

Newsletter Issue #17, The Mind's Eye, Published by Pearson India Education Services Private Limited

Dr. Deepika Jain

Dr. Deepika Jain was featured as the "Professional of the Month" in Issue #17 of "The Mind's Eye" newsletter, published by Pearson India Education Services Private Limited. The feature recognized Dr. Jain's contributions to child development and early intervention practices in India.