Background The Language Assessment Scale Trivandrum (LEST) is a commonly used scale to assess the language development of children aged between zero and three years. The scale is commonly utilized in healthcare and community environments; however, there are no publicly available gender-specific standards that are used in the scale. The current study set out to examine gender disparities observed in the test and determine whether future accurate assessments will require the creation of separate LEST scales for boys and girls. Methodology A cross-sectional study was conducted among 198 children aged between zero and three years, with 99 girls and 99 boys. Parents of all eligible children after obtaining consent were interviewed, and the LEST scale was used to assess them in the form of a questionnaire. The LEST scale has 33 test items, which are used to test language development. Results There were substantial gender disparities between girls and boys. Boys had a delay in acquiring language milestones compared to girls, and the difference was significant. Overall, 27 girls out of 78 delayed children (34.6%) and 51 boys out of 78 delayed children (65.4%) had language delays with a significant p-value of 0.003. Conclusions Our study suggests that boys follow a different timeline for achieving language milestones compared to girls. These findings need to be validated with a larger study, and if found to have a significant difference, separate scales can be developed for boys and girls to assess language-acquiring skills.

OBJECTIVE: Evaluate pediatric auditory brainstem response (ABR) findings in children with Autism Spectrum Disorder (ASD) after the 2013 DSM-5 update.
METHODS: This was an IRB-approved, six-year retrospective chart review evaluating ABR results from pediatric patients with speech delay. Diagnosis of ASD and other neurodevelopmental abnormalities were collected for patient stratification.
METHODS: From 2017 to 2023, 148 pediatric patients with speech delay were identified through diagnosis of speech delay and underwent ABR testing. Patients were then separated into two groups: Neurotypical (N = 79) and ASD (N = 69). ABR results were obtained through chart review and waveform and interpeak latency (IPL) results were recorded. Differences in waveform and IPL results were determined via Pearson\'s chi-square test, with multivariate analysis accounting for race, sex, and age.
RESULTS: 28 patients with ASD (40.6 %) had at least one waveform/IPL prolongation. Analysis showed an increased incidence of waveform III (p = 0.028) and IPL III-V (p = 0.03) prolongation in the ASD group compared to their neurotypical counterparts. Waveform III prolongation was noted more in females with ASD (p = 0.001) than in males. No statistically significant difference when comparing race and age was found, except in the 2-3 age range (p = 0.003).
CONCLUSIONS: There were higher percentages of prolongation for all waveforms and IPLs in the ASD group versus neurotypical, though not as high as previously reported. Race and age did not appear to be factors in ABR findings though more data is needed to make clinical associations.

Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as \"intellectual developmental disorder with language impairment with or without autistic features\" (OMIM#613670) or FOXP1 syndrome for short. The main features of the condition are global developmental delay/intellectual disability; speech impairment in all individuals, regardless of their level of cognitive abilities; behavioral abnormalities; congenital anomalies, including subtle dysmorphic features; and strabismus, brain, cardiac, and urogenital abnormalities. Here, we present two siblings with a de novo heterozygous FOXP1 variant, namely, a four-year-old boy and 14-month-old girl. Both children have significantly delayed early psychomotor development, hypotonia, and very similar, slightly dysmorphic facial features. A lack of expressive speech was the leading symptom in the case of the four-year-old boy. We performed whole-exome sequencing on the male patient, which identified a pathogenic heterozygous c.1541G>A (p.Arg514His) FOXP1 mutation. His sister\'s targeted mutation analysis also showed the same heterozygous FOXP1 variant. Segregation analysis revealed the de novo origin of the mutation, suggesting the presence of parental gonadal mosaicism. To the best of our knowledge, this is the first report of gonadal mosaicism in FOXP1-related neurodevelopmental disorders in the medical literature.

UNASSIGNED: Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We suggest that short stature is among the most common manifestations in patients with 20p13 subtelomeric microdeletion.
UNASSIGNED: Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases. We report a 16-year-old male with a 1.59 Mb terminal deletion in chromosome 20p13, who presented with proportionate short stature, mild language delay, mild learning disability, and delayed puberty. The clinical phenotype associated with this deletion can exhibit clinical variability. Our patient deviates from the typical developmental and intellectual phenotype seen in the 20p13 deletion, instead displaying mild speech delay, short stature, and delayed puberty. The CSNK2A1 deletion, leading to haploinsufficiency, might be the potential mechanism. And the prominence of his proportionate short stature provides a unique perspective to review the existing literature.

OBJECTIVE: To evaluate the effect of antiepileptic medications prescribed to mothers during pregnancy on the development and behavior of children.
METHODS: From the Kerala Registry of Epilepsy and Pregnancy, 98 children between the ages of 1½ to 2½ y were consecutively chosen. Children of mothers who did not have epilepsy during pregnancy and not exposed to antiseizure medications (ASMs) antenatally were selected as comparator group. Developmental assessment of the children was performed using Developmental Assessment Scale for Indian Infants (DASII) and Receptive-Expressive Emergent Language Scale (REELS). Behavior outcomes were assessed using Child Behavior Checklist.
RESULTS: A significant delay in expressive language skills was seen in children exposed to antiseizure medication with an odds ratio of 2.539 (95% CI 1.10, 5.85, P = 0.026). A delay in expressive language skills was seen in polytherapy with clobazam (odds ratio 6.83; 95% CI 2.17, 21.56, P < 0.001). Also, delay was seen in receptive language skills in the same polytherapy group (odds ratio of 7.333; 95% CI 2.16, 24.92, P < 0.001). There were no statistically significant differences between study and comparative groups in motor and mental quotient domains and behavioral outcomes.
CONCLUSIONS: The finding of speech delay in children exposed to ASMs is significant since individuals with a history of childhood speech or language disorders may experience long-term difficulties in mental health, social well-being, and academic outcomes.

Biallelic pathogenic variations in the zinc finger protein 142 (ZNF142) gene are associated with neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This disorder is characterized by developmental delay, intellectual disability, speech delay, and movement disorders such as dystonia, tremor, ataxia, and chorea. Here, we report a patient who exhibited common neurological features and rarely reported brain MRI findings. Exome sequencing identified a novel biallelic variant in ZNF142 (c.3528_3529delTG; p.C1176fs*5 (NM_001105537.4)). NEDISHM was first described by Khan et al. (2019) and has been reported in 39 patients to date. Furthermore, upon reviewing our in-house data covering 750 individuals, we identified three different pathogenic ZNF142 variants. It appears that the frequency of ZNF142 alleles is not as low as initially thought, suggesting that this gene should be included in new generation sequencing panels for similar clinical scenarios. Our goal is to compile and expand upon the clinical features observed in NEDISHM, providing novel insights and presenting a new variant to the literature. We also aim to demonstrate that ZNF142 pathogenic variants should be considered in neurodevelopmental diseases.

The disconnected (disco)-interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase-associated protein 1 (DMAP1) binding domain, Acyl-CoA synthetase domain and AMP-binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco-interacting protein 2 homolog A (DIP2A), Disco-interacting protein 2 homolog B (DIP2B), and Disco-interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss-of-function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss-of-function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10-24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss-of-function variants in DIP2C with a neurocognitive phenotype.

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Introduction Verbal communication relies on the ability to speak and understand language. Speech is only one part of language; language can also be expressed through gestures, writing, and other nonverbal means. Speech and language disorders are impairments in the ability to produce and comprehend language, including problems with mouth movements and vocalization. There is a scarcity of literature on this topic in Saudi Arabia; therefore, the aim of this study was to assess the prevalence and risk factors of speech delay in children aged less than seven years in Saudi Arabia. Methods A cross-sectional self-reported descriptive study was conducted from May 2023 to June 2023 among parents of children less than seven years of age in the Kingdom of Saudi Arabia. Simple convenience sampling was implemented. A structured, self-administered questionnaire was designed and presented to the parents of children less than seven years of age. Categorical data were presented as frequencies and percentages. The analysis included a chi-squared test and a Fisher\'s exact test. Results A total of 617 participants were included in the study. The majority of children were between 1 and 3 years of age (223, 36.1%) and were male (336, 54.5%). Around 45.5% of the respondents reported that their children may have a speech delay. Children aged >3 to 5 years had a significantly higher prevalence of speech delay (112, 53.1%). Additionally, there was a significant difference in speech delay prevalence between male (170, 50.6%) and female (111, 39.5%, p = 0.006) children. A family history of a developmental communication disorder was significantly associated with speech delay (p < 0.001). Children with speech delay were more likely to have hearing issues (19, 70.4%) and motor issues (19, 70.4%). Moreover, autism spectrum disorder in the child was significantly associated with speech delay (p < 0.001). Conclusions The study found that children aged 3 to 5 years had a significantly higher prevalence of speech delay than younger children. There was a significant difference in speech delay prevalence between male and female children. Children with speech delays were more likely to suffer hearing and motor issues. Speech delay was significantly associated with a family history of a developmental communication problem.

(1) Background: Identification of typical behavioral manifestations in patients with DEAD-Box Helicase 3 X-linked gene (DDX3X) variants plays a crucial role in accurately diagnosing and managing the syndrome. The objective of this paper was to carry out a review of medical and public databases and assess the behavioral features of the DDX3X syndrome (DDX3X), with a particular focus on psycho-pathological symptoms. (2) Methods: An extensive computerized search was conducted in various databases, including PubMed, Medline Complete, Science Direct, Scopus, and Web of Science. Specific keywords and Medical Subject Headings were used to ensure the inclusion of relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were applied to assess the methodological quality of the manuscripts. (3) Results: Only nine papers out of the 272 assessed met the inclusion criteria. These articles revealed various psycho-pathological manifestations in patients with the DDX3X syndrome. Intellectual disability (ID) or developmental disability (DD), speech delay, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), generalized anxiety disorder (GAD), self-injurious behaviors (SIBs), sensory symptoms and sleep disturbance were demonstrated to be the most common psycho-pathological behavior manifestations. (4) Conclusions: Patients with the DDX3X syndrome manifest a wide spectrum of psycho-pathological symptoms. A comprehensive investigation of these symptoms in patients is essential for early diagnosis and effective therapy.