Expressive Language Delay Research Articles

Dynamics of Motor Skill Learning in American and Israeli Toddlers With Varied Language Proficiency.

The aim of the present study was twofold: to determine if deficits in motor skill proficiency and learning were present in 2-year-old children identified with early expressive language delay compared to peers without the delay, and to distinguish how motor skill proficiency and learning behaviors may manifest differently across culturally and linguistically diverse backgrounds. The study involved 54 children (24-36 months of age), 23 of whom were identified as having an expressive language delay. Furthermore, 16 participants were American and English-speaking and 38 were Israeli and Hebrew-speaking. After motor and language skill proficiency was assessed using a variety of measures, each child and participating parent were introduced to a nonsymmetrical-shaped insertion task so that motor learning skills could be observed. This block insertion task was observed for each child at three time points and included a transfer task (same task, new nonsymmetrical shape). Children with early expressive language delay were statistically significantly more likely to exhibit deficits in fine-motor proficiency than peers without language delay, regardless of country of origin or language spoken. Furthermore, participants with language delay demonstrated significantly higher error rates in transfer task completion compared with peers. Finally, participants in the U.S. sample indicated lower fine-motor skills and higher error rates than those in the Israeli sample. Differences in motor skill proficiency were universally associated with language delay status, indicating support for the notion that language acquisition deficits may extend beyond the linguistic system even in young children identified as late talkers.

Long-Term Growth and Neurodevelopmental Outcomes of Neonates Infected with SARS-CoV-2 during the COVID-19 Pandemic at 18–24 Months Corrected Age: A Prospective Observational Study

Introduction: During the early coronavirus disease (COVID-19) pandemic in 2020, researchers cautioned about the potential neuroinvasive capability of the virus and long-term neurological consequences. Although a few preliminary studies have found delayed communication, fine motor, and problem-solving skills in infants after COVID-19 infection, there continues to be a paucity of data on long-term development of neonates diagnosed with COVID-19. Methods: We conducted a prospective study of 20 neonates who acquired severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection during the first wave of the pandemic (April–July 2020). At 18–24 months corrected age, we assessed neurodevelopment by Bayley Scales of Infant and Toddler Development, the third edition (BSID-III), along with growth, hearing, and vision evaluation. Results: The mean corrected age at assessment was 21 months 11 days ± 1 month 28 days. We found developmental delay in nearly half of the children with scores below one standard deviation in either of the BSID-III domains. Mild delay in either motor, cognitive, or language domains was found in 9 (45%) children and moderate delay in 2 (10%). Expressive language, fine motor, and receptive language were predominantly affected. None of the children had hearing impairment, blindness, or significant growth faltering including clinically severe microcephaly. The mean composite cognitive, language, and motor scores were significantly lower in those with neurodevelopmental delay (p value – 0.02, 0.000, and 0.03, respectively) without any differences in their disease characteristics. Conclusion: Neonates infected with SARS-CoV-2 have an increased risk of developmental delays in expressive language, fine motor, and receptive language skills at 18–24 months of age. The severity of delays is predominantly mild.

Varying Syntax to Enhance Verb-Focused Intervention for 30-Month-Olds With Language Delay: A Concurrent Multiple Baseline Design.

The purpose of this study is to determine if 2.5-year-olds with language delay would learn verbs (spill) when presented with varying syntactic structure ("The woman is spilling the milk"/"The milk is spilling"; milk = patient or theme) in a therapeutic context. Children with language delay have proportionally small inventories of verbs, which limits expressive language development. Children who have typical language development learn verbs more robustly when presented with alternating arguments than with a single argument structure. Three toddlers with expressive language delay (29-30 months of age) participated in a verb-focused treatment study using a concurrent multiple baseline design. Participants were shown action videos accompanied by sentences with varied argument structure for each target verb. To assess learning pre- and posttreatment, participants were asked to demonstrate actions corresponding to each verb. Visual inspection and tau analyses reveal significant posttreatment gains of target verbs taught with varying argument structures. Our results indicate that learning verbs with high variability of argument roles may facilitate a strong link between lexical representations of verbs and their syntactic structures. Using argument structure variability to teach verbs as an intervention strategy has great potential and should be tested further in larger group studies.

Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.

Introduction: Kleefstra Syndrome type 2 (KLEFS-2) is a genetic, neurodevelopmental disorder characterized by intellectual disability, infantile hypotonia, severe expressive language delay, and characteristic facial appearance, with a spectrum of other distinct clinical manifestations. Pathogenic mutations in the epigenetic modifier type 2 lysine methyltransferase KMT2C have been identified to be causative in KLEFS-2 individuals. Methods: This work reports a translational genomic study that applies a multidimensional computational approach for deep variant phenotyping, combining conventional genomic analyses, advanced protein bioinformatics, computational biophysics, biochemistry, and biostatistics-based modeling. We use standard variant annotation, paralog annotation analyses, molecular mechanics, and molecular dynamics simulations to evaluate damaging scores and provide potential mechanisms underlying KMT2C variant dysfunction. Results: We integrated data derived from the structure and dynamics of KMT2C to classify variants into SV (Structural Variant), DV (Dynamic Variant), SDV (Structural and Dynamic Variant), and VUS (Variant of Uncertain Significance). When compared with controls, these variants show values reflecting alterations in molecular fitness in both structure and dynamics. Discussion: We demonstrate that our 3D models for KMT2C variants suggest distinct mechanisms that lead to their imbalance and are not predictable from sequence alone. Thus, the missense variants studied here cause destabilizing effects on KMT2C function by different biophysical and biochemical mechanisms which we adeptly describe. This new knowledge extends our understanding of how variations in the KMT2C gene cause the dysfunction of its methyltransferase enzyme product, thereby bearing significant biomedical relevance for carriers of KLEFS2-associated genomic mutations.

Signs and symptoms of Autism Spectrum Disorder and early diagnosis as a benefit in the prognosis of pediatric patients: A systematic review

Objective: To analyze the scientific production on autism spectrum disorder (ASD), seeking to relate the importance of describing the signs and symptoms that permeate ASD with the early diagnosis of pediatric patients and their better prognosis. Methodology: Systematic review, using the Pubmed and VHL database, with the descriptors: autism, diagnosis, signs and symptoms, prognosis, from 2019 to 2023. A total of 381 articles were identified and, after applying the inclusion and exclusion criteria, 21 studies were selected for analysis. Results: Due to its heterogeneous nature, ASD presents with a wide variety of clinical symptoms and environmental and genetic risk factors. Among the signs and symptoms could be listed: delays in expressive language, communication, deficits in social interaction, and restricted and repetitive behaviors added to interests or activities that cause clinical harm. Within the material analyzed, the studies highlighted the possibility of an early diagnosis based on specific questionnaires, eye monitoring, MRI patterns and behavioral patterns; in addition to the risk factors most related to ASD. Conclusion: Early recognition of the signs and symptoms that permeate autism spectrum disorder is essential to ensure a better long-term prognosis for these autistic children.

Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism.

Evidence suggests autistic individuals at elevated familial likelihood of autism spectrum disorder (by virtue of having an autistic sibling) have stronger cognitive abilities on average than autistic individuals with no family history of the condition, who have a low familial likelihood of autism. Investigating phenotypic differences between community-referred infants and toddlers with autism symptoms at elevated or low familial likelihood of autism may provide important insight into heterogeneity in the emerging autism phenotype. This study compared behavioral, cognitive, and language abilities of community-referred infants and toddlers with confirmed autism symptoms at elevated (EL) or low familial likelihood of autism (LL). Participants were 121 children aged 12 to 36 months who participated in two larger randomized trials of parent-mediated interventions for children with autism symptoms. Behavioral phenotypes were compared across three groups: children with at least one autistic sibling (EL-Sibs, n = 30), those with at least one older, non-autistic sibling and no family history of autism (LL-Sibs, n = 40), and first-born children with no family history of autism (LL-FB, n = 51). EL-Sibs had less severe autism symptoms and stronger cognitive abilities than children in LL groups. While the rate of receptive language delay was similar across groups, the rate of expressive language delay was markedly lower among EL-Sibs. After controlling for age and nonverbal cognitive ability, EL-Sibs were significantly less likely to present with expressive language delay than LL-Sibs. Familial likelihood of autism may play an important role in shaping the emerging autism phenotype in infancy and toddlerhood.

Comparison of developmental outcomes in children with permanent and transient congenital hypothyroidism.

Congenital hypothyroidism (CH) is still one of the most common causes of preventable cognitive impairment in children, and its early detection and treatment prevent irreversible neurodevelopmental delay. Depending on the underlying cause, cases with CH may be transient or permanent. This study aimed to compare the developmental evaluation results of transient and permanent CH patients and to reveal any differences. A total of 118 patients with CH, who were followed up jointly in pediatric endocrinology and developmental pediatrics clinics, were included. The patients' progress was evaluated per the International Guide for Monitoring Child Development (GMCD). Of the cases, 52 (44.1%) were female, and 66 (55.9%) were male. While 20 (16.9%) cases were diagnosed with permanent CH, 98 (83.1%) were diagnosed with transient CH. According to the results of the developmental evaluation made with GMCD, the development of 101 (85.6%) children was compatible with their age, while 17 (14.4%) children had delays in at least one developmental area. All 17 patients had a delay in expressive language. Developmental delay was detected in 13 (13.3%) of those with transient CH and 4 (20%) with permanent CH. There is difficulty in expressive language in all cases of CH with developmental delay. No significant difference was found between the developmental evaluations of permanent and transient CH cases. The results revealed the importance of developmental follow-up, early diagnosis and interventions in those children. GMCD is thought to be an important guide to help monitoring the development of patients with CH.

Assessment and Therapy Goal Planning Using Free Computerized Language Analysis Software.

We discuss a free software system (Computerized Language Analysis [CLAN]) that can enable fast, thorough, and informative language sample analysis (LSA). We describe methods for eliciting, transcribing, analyzing, and interpreting language samples. Using a hypothetical child speaker, we illustrate use KidEval to generate a diagnostic report. Given LSA results suggestive of expressive language delay, we analyze further using CLAN's Developmental Sentence Score and Index of Productive Syntax routines, and outline the child's use of Brown's morphemes. This tutorial provides an introduction to the use of free CLAN software. We discuss how LSA results can be used to structure therapy goals that address specific aspects of grammatical structure that the child may not yet demonstrate in their spoken language. Finally, we provide answers to common questions, including user support.

Guanidinoacetate Methyltransferase Deficiency, a Treatable Neurodevelopmental Disorder

AbstractGuanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine synthesis that results in intellectual disability, epilepsy, expressive language delay, and dystonia. We report data from two siblings with an uncommon GAMT deficiency phenotype and their clinical, biochemical, imaging, and treatment findings. The older sibling had intellectual disability, epilepsy, and generalized dystonia. The younger sibling had intellectual disability and generalized dystonia. After treatment with creatine, verbal fluency improved, as well as dystonia and aggression. This study confirms that in patients with unexplained intellectual disability, epilepsy, and/or movement disorders, GAMT deficiency should be considered. GAMT-associated cerebral creatine deficiency syndrome is a potentially treatable condition and can be identified by elevated levels of guanidinoacetate in plasma or urine or by a significantly decreased creatine peak on magnetic resonance spectroscopy.

Parent-Implemented Language Intervention for Late Talkers: A Scoping Review

Parent-implemented language intervention (PILI) is one of the intervention approaches used in managing late talkers (LTs). Yet, there are few evidence-based PILI programs available for parents of LTs. This scoping review aimed to (a) assess the characteristics of participants depicted in the literature related to PILI programs for parents of LTs, (b) provide an overview of the structure and design of the available PILI programs for parents of LTs, and (c) explore the effectiveness of the programs in relation to the characteristics of reviewed studies. The scoping review was performed by adhering to the general principles prescribed by Arksey and O’Malley (2005). Articles that fulfilled the inclusion criteria and were published from 1980 to 2018 were selected. Two reviewers independently charted the information from the identified articles. A total of 15 articles were selected. The results were reviewed in terms of participant characteristics, intervention characteristics, and effectiveness of PILI programs. Most adult participants in PILI studies were mothers and included child participants with either expressive language delay or receptive and expressive language delay. Moreover, there were different structures and designs of PILI programs for parents of LTs. Preliminary evidence indicated that PILI was more effective than no/delayed intervention and could be as effective as direct therapy provided by clinicians. A discussion related to the findings was also presented. Keywords:parent-implemented language intervention, late talkers, parent training, language intervention

A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype

BackgroundLysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be characterized in detail.Case presentationHerein, we identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C > A, p.S1178X) in a sporadic 4-year-old Chinese girl, who presented with Claes-Jensen type-like phenotypes, such as moderate developmental delay, serious expressive language delay, short stature, microcephaly, and typical facial particularities. Moreover, X-chromosome inactivation (XCI) analysis showed no significant skewed X-inactivation.ConclusionThe report expands the genotype of KDM5C variation in female patients, delineates the phenotype of affected females in this well-known X-linked disorder, and also reinforces the necessity to consider this X-linked gene, KDM5C, in sporadic female patients.

Late bloomer or language disorder? Differences in toddler vocabulary composition associated with long-term language outcomes.

Children with delays in expressive language (late talkers) have heterogeneous developmental trajectories. Some are late bloomers who eventually "catch-up," but others have persisting delays or are later diagnosed with developmental language disorder (DLD). Early in development it is unclear which children will belong to which group. We compare the toddler vocabulary composition of late talkers with different long-term outcomes. The literature suggests most children with typical development (TD) have vocabularies dominated by names for categories organized by similarity in shape (e.g., cup), which supports a bias to attend to shape when generalizing names of novel nouns-a bias associated with accelerated vocabulary development. Previous work has shown that as a group, late talkers tend to say fewer names for categories organized by shape and are less likely to show a "shape bias" than TD children. Here, in a retrospective analysis of 850 children, we compared the vocabulary composition of groups of toddlers who were late bloomers or persisting late talkers. At Time 1 (13-27 months), the persisting late talkers said a smaller proportion of shape-based nouns than both TD children and late bloomers who "caught up" to typically sized vocabularies months later (18-38-months). Additionally, children who received a DLD diagnosis between 4 and 7 years said a significantly smaller proportion of shape-based nouns in year two than TD children and children with other diagnoses (e.g., dyslexia). These findings bring new insight into sources of heterogeneity amongst late talkers and offer a new metric for assessing risk. RESEARCH HIGHLIGHTS: Toddler vocabulary composition, including the proportion of names for categories organized by shape, like spoon, was used to retrospectively compare outcomes of late talking children Persisting Late Talkers said a smaller proportion of shape-based nouns during toddlerhood relative to Late Bloomers (late talkers who later caught up to have typically-sized vocabularies) Children with later DLD diagnoses said a smaller proportion of shape-based nouns during toddlerhood relative to children without a DLD diagnosis The data illustrate the cascading effects of vocabulary composition on subsequent language development and suggest vocabulary composition may be one important marker of persisting delays.

Exploring swallowing, feeding and communication characteristics of toddlers with severe acute malnutrition.

Severe acute malnutrition (SAM) is associated with cognitive and motor deficits. Little is known about the swallowing, feeding and communication characteristics of hospitalised toddlers with SAM, limiting the abilities of speech-language therapists to provide effective early intervention. To explore the background, swallowing, feeding and communication characteristics of toddlers with SAM during in-patient nutritional rehabilitation. An exploratory, prospective, collective case-study was conducted with three hospitalised toddlers who were 12-18 months old and independently diagnosed with SAM, at least 1 week after transitioning to oral feeding. Detailed case histories were compiled through medical file perusal and parent interviews. Cross-sectional clinical bedside assessments were completed with the Rossetti Infant-Toddler Language Scale and Schedule for Oral-Motor Assessment. All three participants had a history of feeding difficulties before admission. Despite intact pharyngeal swallows, heterogeneous oral-sensorimotor dysfunction and disruptive feeding behaviours were identified. Risk for oropharyngeal dysphagia indicates the need to modify dietary consistencies to prevent prolonging recovery or SAM relapse. Participants had mild-to-moderate language delays, particularly in interaction-attachment, play and language comprehension, with an atypical moderate receptive and mild expressive language delay profile. None of the participants were referred for speech-language therapy. This exploratory research showed the oral-sensorimotor skills, swallowing and communication characteristics of children with SAM. Speech-language therapists could address oral-sensorimotor functioning, feeding difficulties and communication interaction delays before discharge to community-based management for SAM. Further investigation with a larger sample size is recommended.Contribution:Novel description of the oral-sensorimotor skills for feeding and the communication development of three severely malnourished toddlers with HIV and tuberculosis co-infection was presented. The complexity of the three cases is highlighted.

Pediatric School Outreach: Clinical Needs of an Urban Student Population.

Pediatric School Outreach (PSO) is a school-based health center (SBHC) in an urban elementary school in Toronto, Canada. PSO focuses on developmental, behavioral, mental health, and educational concerns. A retrospective chart review aimed to characterize demographics, diagnoses, and referrals of patients attending PSO. Of 137 children, ages 2 to 15 years, 73.7% were male; 58.1% had a household annual income of <$30 000 CAD. Possible or confirmed diagnoses included attention deficit hyperactivity disorder (48.5%), learning disability (35.6%), anxiety (22.0%), autism spectrum disorder (16.7%), oppositional defiant disorder (14.4%), and expressive language delay (11.4%). Involvement of community mental health and other agencies was advised in 37.9% of cases. Psychoeducational testing was recommended for 25.0% of patients. Results suggest the need for timely developmental testing, particularly for autism spectrum disorder, and accessible learning disability diagnostic support. There is potential for expansion of interprofessional care at PSO, including psychology, psychiatry, social work, and behavior therapy.

Integrative Modeling, Molecular Mechanics, and Molecular Dynamics Evaluation of Genomics Variants in KMT2C (MLL3), a Gene Involved in Kleefstra Syndrome Type 2

Kleefstra Syndrome (KS) is a genetic, neurodevelopmental disorder characterized by intellectual disability, infantile hypotonia, severe expressive language delay, and characteristic facial appearance, with a spectrum of other distinct clinical manifestations. Pathogenic mutations in the epigenetic modifier, type 2 lysine methyltransferase (KMT2C), are attributed to cause KS core features in individuals who are Euchromatic Histone Lysine Methyltransferase 1, EHMT1, mutation negative. These individuals are designated as having KS type 2. In this study, we made use of multidimensional approaches, including conventional genomic bioinformatics, molecular modeling, molecular mechanics, and molecular dynamics simulations, to understand and enhance the annotation and potential mechanisms by which disease‐associated missense variants affect KMT2C function. In addition, we report a scoring system based on statistical integration and modeling of data derived from the structure and dynamics of KMT2C, which allows us to classify germline variants into SV (Structural Variants), DV (Dynamic Variants), SDV (Structural and Dynamic Variant), and VUS (Variant of Uncertain Significance). Moreover, these scores of disease‐associated variants reflect alterations in molecular fitness when compared with tolerated, benign variants, used as controls. Thus, these studies provide data that is more refined, both structurally and functionally for each variant, compared to current annotation tools used in human genomics databases and reveal mechanisms for their dysfunction not predictable from clinical genomic methods alone. This new knowledge extends our understanding of molecular mechanisms underlying the dysfunction of KS type 2‐associated genomic mutations. Lastly, by identifying KMT2C mutation‐specific druggable conformations, this study builds the trajectory toward the future development of small molecules to ameliorate the symptoms of this disease.

EP296: Familial MECP2 variants: a report of 4 affected families highlighting the variable phenotypic spectrum and implications for genetic counseling

Pathogenic variants in MECP2 cause a spectrum of neurodevelopmental disorders, most commonly Rett syndrome (RTT; 312750). Although historically this was considered an X-linked dominant diagnosis with male lethality, it is now known that males can also be affected, with a disease spectrum ranging from severe neonatal encephalopathy to intellectual disability (ID). Other features commonly seen in RTT are inconsistently present in males. A qualified genotype-phenotype correlation exists, with variants that are known to cause RTT in females most often leading to more severe phenotypes in males. Additionally, whereas pathogenic MECP2 variants identified in affected females with classic and atypical RTT are most often de novo variants, pathogenic variants in males may be either de novo or maternally inherited. Here we report 4 novel families with pathogenic MECP2 variants. In all 4 families, the affected probands were male and maternal inheritance was identified. Family 1: The proband is a now 8-year-old male with mild global developmental delay, epilepsy, ataxia, and hypotonia. He also has significant anxiety. Epilepsy gene panel identified a hemizygous pathogenic variant in MECP2 (c.491C>T; p.Ala140Val); targeted testing confirmed maternal inheritance. His mother has no significant medical issues or learning issues, but endorses a history of anxiety. He has four clinically unaffected siblings; one brother has been tested and is negative. His other brother and sisters have not been tested. Family 2: The proband is a now 47-year-old male with mild-moderate intellectual disability. Genetic testing was initiated after MRI performed in the context an episode of confusion and shaking concerning for a panic attack revealed signal abnormalities in the bilateral cerebral peduncles possibly concerning for Fragile X Associated Tremor Ataxia Syndrome (FXTAS). He also experienced a motor regression and onset of dystonia after an episode of rhabdomyolysis in his mid 40’s and has not returned to baseline. Trio exome sequencing identified a maternally inherited hemizygous pathogenic variant (c.499C>T; p.Arg167Trp) in MECP2. Cascade testing identified that his sister and niece also both carry the familial MECP2 variant. His sister has a history of learning difficulties, significant anxiety, obsessive compulsive disorder, and has developed progressive spasticity with hyperreflexia and sustained clonus over time. His niece also has anxiety, obsessive compulsive disorder, and bipolar disorder. Family 3: The proband is a now 37-year-old male with mild intellectual disability and autism spectrum disorder. He also has a history of anxiety and depression. Trio exome sequencing identified a maternally inherited hemizygous pathogenic variant (c. 1136_1151del16; p.Pro379HfsX25) in MECP2. Testing was initiated after the onset of abnormal movements in his thirties suggestive of dystonia. Exam was notable for kyphosis and shuffling gait. His mother reports a history of anxiety, but no learning or cognitive concerns and no other neurologic symptoms. He has one clinically unaffected sister who has not yet been tested. Exome sequencing also identified a de novo, heterozygous c.1672C>T (p.Arg558Cys) variant of uncertain significance in ALDH18A1, though it is unclear whether or not this is contributing to his phenotype. Family 4: The proband is a now 8-year-old male who initially presented for evaluation due to concern for global developmental delay, hypotonia, and macrocephaly. Family history was unremarkable. MRI identified prominent perivascular spaces. Trio exome sequencing identified a maternally inherited likely pathogenic hemizygous variant (c.1244delC; p.Pro415LeufsX6) in MECP2. The proband’s younger brother subsequently presented with expressive language delay and was also macrocephalic. Targeted testing confirmed the presence of the familial MECP2 variant. These 4 familial reports of pathogenic MECP2 variants add to the data provided by previous publications describing the phenotypic spectrum in affected males and supporting that many of the variants may be maternally inherited. Affected male probands in all cases presented with developmental delay and/or intellectual disability. Only 1/4 probands had epilepsy. Anxiety was present in 3/4. Cascade testing identified carrier female relatives with a prominent neuropsychiatric phenotype in one family. Anxiety was also reported in the mothers of two other families, without any other cognitive or neurologic features. Although two families harbored pathogenic missense variants previously known to be associated with an X-linked intellectual disability phenotype, two families with mildly affected male probands and unaffected female carrier mothers had novel, predicted loss of function variants that would have been expected to result in a RTT phenotype. These families highlight the clinical variability that can be seen with pathogenic MECP2 variants and challenge reported genotype-phenotype correlations, providing important information for genetic counseling.

The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome.

Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.

Patterns of social interaction in families of children with Expressive Language Delay

There are two types of languages one is receptive and the other one is expressive. The lack in sufficient social interaction of parents with their children although normal in all developmental milestones causes a delay in their expressive language.Objective: The objective of the present study was to determine the different patterns of soial interaction used by families that are responsible for the development of Expressive Language Delay in children. Methods: Comparitive Cross sectional survey was used for this study. The parents of 100 children from Lahore, of which 50 were parents of normally speaking children and 50 were parents of children with expressive language delay was taken as sample. These parents were asked to fill the questionairre accordingly that consists of different statements regarding their social patterns used by them to interact with their children. Results: Results indicated that there were significant differences with a p-value of 0.01 between the patterns used by parents of normally speaking children than those of expressive language delayed children. The mean values of excessive screen time of children with expressive language delay and normally speaking were 1.9600 and 4.0200 with standard deviations of 1.22824 and 0.84491 respectively. There were also insignificant differences with the p-value <0.01 in habits including reading picture books, using simple sentences and abrupt response to new things happen of parents with normally speaking children than with the parents of expressive language delayed children. Conclusion: It is concluded that there is a difference between interactional patterns of parents of children with expressive language delay than those with normally speaking children that are the main causes of developemnt of expressive language delay in these children.

Toileting Resistance Among Preschool-Age Children with and Without Autism Spectrum Disorder.

Children with autism spectrum disorder (ASD) may achieve continence later than other children. Little is known about factors associated with toileting resistance in children with ASD and other developmental delays/disabilities (DD). We sought to describe toileting resistance in children with ASD and DD and those from the general population (POP) and identify factors associated with toileting resistance in children with ASD and DD. Families and children aged 24 to 68 months were enrolled in the Study to Explore Early Development, a multisite case-control study on ASD. Children with ASD (N = 743) and DD (N = 766) and those from the POP (N = 693) who were 48 months or older were included in this study. Parents reported toileting resistance, gastrointestinal issues, behavior problems, and ASD symptoms in their children. Children completed an in-person evaluation to determine ASD status and developmental level. Toileting resistance was more common among children with ASD (49.1%) than children with DD (23.6%) and those from the POP (8.0%). Diarrhea and deficits in social awareness were significantly associated with toileting resistance in children with ASD and DD. Constipation, expressive language delays, and low social motivation were significantly associated with toileting resistance only in children with ASD; very low visual reception skills and oppositional behaviors were significantly associated with toileting resistance in only children with DD (all p ≤ 0.05). Evaluating gastrointestinal issues, developmental delays, and social deficits before toileting training may help identify children with atypical development who are likely to present with toileting resistance. These evaluations can be incorporated into health supervision visits.

Risk stratification helps identify congenital diaphragmatic hernia (CDH) infants in need of formal neurodevelopmental assessment: Observations from a structured, interdisciplinary long-term follow-up clinic

Background/Purpose: Neurodevelopmental delay (NDD) affects congenital diaphragmatic hernia (CDH) infants. Initial assessment by experienced developmental pediatricians, supported by Bayley-3 tests, is a viable pathway for NDD identification and surveillance. We risk stratified CDH infants to observe differences in incidence and type of NDD based on disease severity. Methods: Patients from a CDH long-term follow-up database started in 2012 were reviewed (REB#2019–4583). Risk stratification into low, moderate, and high-risk cohorts was performed using the CDH Study Group Mortality Prediction Score. Patients requiring ECLS, supplemental oxygen at 30 days and patch repair were also considered high-risk (i.e. usual clinical criteria). Post-discharge NDD assessments by developmental pediatricians and occupational therapists (Bayley-3) were analyzed for all patients >18months. NDD incidence and type per risk group was determined using descriptive statistics. Results: Of 102 CDH patients included for study, 26% (27/102) had NDD. Risk stratification identified 2(2%), 7(7%), and 18(18%) patients with NDD in the low, moderate and high-risk groups, respectively. Language delay (2 low; 6 moderate; 10 high) was the most prevalent. Three patients had both expressive and receptive language delay. Motor deficits were observed almost exclusively in the high-risk group. Conclusion: Based on our experience, NDD affects one-quarter of CDH infants. Risk stratification helped identify infants at increased risk of NDD. While language delays predominated across all risk groups, multiple deficits occurred in higher risk cohorts. These patients should receive structured NDD assessment as part of an optimal interdisciplinary CDH care pathway.