History Of Speech Delay Research Articles

Influence Factors, Impact and Interventions for Speech Delay and Language Delay in Early Childhood : Systematic Review

Speech delay occurs when a child is unable to produce words correctly or fluently. Whereas language delay occurs when the child has difficulty in understanding what others are saying or difficulty in conveying information and thoughts. Speech delay and language delay allow children to experience several adverse effects such as developmental delays, decreased cognitive, social and emotional abilities, and risk of having poor health status. The literature search used two databases, Scopus and Scholar. Only studies describing influencing factors and interventions on speech and language delay were included. The results of this systematic review suggest that factors influencing the occurrence of speech and language delay in children, generally occur due to the influence of family factors with a history of speech delay and language delay, and gender factors. As well as, interventions that parents and prospective parents can do to avoid the occurrence of speech and language delays in children include, among others, conducting early examinations or early stage early identification to assess child growth, increasing maternal knowledge related to child development education, involving children in reading and activities together, and it is advisable for mothers to conduct routine examinations during pregnancy.

Novel CIC variants identified in individuals with neurodevelopmental phenotypes.

Heterozygous pathogenic variants in CIC, which encodes a transcriptional repressor, have been identified in individuals with neurodevelopmental phenotypes. To date, 11 CIC variants have been associated with the CIC-related neurodevelopmental syndrome. Here, we describe three novel and one previously reported CIC variants in four individuals with neurodevelopmental delay. Notably, we report for the first time a de novo frameshift variant specific to the long isoform of CIC (CIC-L, NM_001304815.1:c.1100dup, p.Pro368AlafsTer16) in an individual with speech delay, intellectual disability, and autism spectrum disorder. Our investigation into the function of CIC-L reveals that partial loss of CIC-L leads to transcriptional derepression of CIC target genes. We also describe a missense variant (NM_015125.3:c.683G>A, p.Arg228Gln) in an individual with a history of speech delay and relapsed pre-B acute lymphoblastic leukemia. Functional studies of this variant suggest a partial loss of CIC transcriptional repressor activity. Our study expands the list of CIC pathogenic variants and contributes to the accumulating evidence that CIC haploinsufficiency or partial loss of function is a pathogenic mechanism causing neurodevelopmental phenotypes.

Ocular manifestations in children with developmental delay in an eye hospital of northern Bangladesh

Background: The aim of this study was to identify common ocular manifestations in children with developmental delay in an eye hospital of northern part of Bangladesh.Methods: It was a retrospective medical record review of children with developmental delay who attended the pediatric ophthalmology department in an eye hospital from January 2019 to December 2019. Data were collected for their age, gender, past medical history, ophthalmic examination findings and systemic problems. Ophthalmic examination included examination of lid and adnexa, anterior and posterior segment examination and assessment of squint and refraction.Results: Medical records of 102 with developmental delay were identified and studied (59 boys and 43 girls, mean age 1.57 years, 53.9% aged <1 year). Of these children, 44 (43.1%) were referred by the pediatricians. The most common past medical histories were perinatal asphyxia (42.2%), history of convulsion (30.4%), neonatal seizures (9.8%) and history of speech delay (1%). On ophthalmic examination, 30 (29.5%) had poor vision, 20 (19.6%) had refractive error, 23 (22.5%) had Strabismus and 11 (10.8%) had nystagmus. Optic atrophy was also observed among 11 children (10.8%).Conclusions: Ocular manifestations are commonly seen in children with developmental delay which can be cause of severe visual impairment and overall disability in later life. Hence an early ophthalmologic screening and intervention in these children by developing good referral network between ophthalmologist and pediatricians can help to substantially improve the developmental and academic achievement.

Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar

Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders; novel pathologic chromosomal abnormalities are being identified in relation to various type of epilepsies in childhood. We report the case of a 4-year-old girl with a history of speech delay and communication disorder, mild dysmorphic features, and absence epilepsy with a de novo microdeletion 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in similar several cases with similar phenotype including intractable myoclonic and absence epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered idiopathic should consider genetic study for childhood epilepsies especially if it was associated with underlying developmental delay in any particular aspect as speech delay in our case.

Children with autism spectrum disorders and selective mutism.

BackgroundIt has been suggested that autism spectrum disorder (ASD) might be a “comorbid” condition in selective mutism (SM).MethodsIn this retrospective study, we examined medical records of children with SM diagnosis (n=97) at a medical center specializing in assessment of ASD.ResultsMean age for onset of SM symptoms was 4.5 years and mean age at SM diagnosis was 8.8 years. SM was more common among girls (boy:girl ratio=2.7:1). We found that 63% of the study group had an ASD (no gender difference). The SM group with combined ASD had later onset of symptoms, higher age at diagnosis, more often a history of speech delay, and a higher proportion of borderline IQ or intellectual disability.ConclusionThe results highlight the risk of overlap between ASD and SM.

Congenital Bilateral Perisylvian Syndrome: Familial Occurrence, Clinical and Psycholinguistic Aspects Correlated with MRI

Congenital bilateral perisylvian syndrome (CBPS) is frequently caused by polymicrogyria (PMG). The aim of this study was to correlate the clinical and psycholinguistic aspects with neuroradiological data of patients with CBPS. Thirty-one patients were studied. We performed a clinical investigation of the patients and their families, including MRI scanning, neuropsychological tests and language evaluation. The statistical analysis showed that: a) prenatal events are associated with the non-familial type of PMG; b) diffuse PMG is associated with pseudobulbar signs, as opposed to BPPP; c) motor deficit is associated with diffuse PMG; d) epilepsy is equally present in patients with both familial or non-familial PMG, but is more frequently seen in patients with diffuse PMG; e) dyslexia and SLI can be a feature of both the diffuse or BPPP, and either familial or sporadic cases of PMG. The severity of clinical manifestations in CBPS is correlated with the extent of cortical involvement. Most patients with CBPS have a history of speech delay or language difficulties and no epilepsy. Dyslexia can be found in patients with PMG.

Pervasive Developmental Disorders Among Children and Adolescents Attending Psychiatric Day Treatment

This study sought to determine the prevalence of pervasive developmental disorders (PDD) among children admitted to a state hospital day treatment service and to characterize the psychiatric disturbance of patients with PDD. A total of 146 consecutively admitted patients were evaluated for PDD. Patients who had PDD were compared with a sample of age- and sex-matched patients in day treatment who did not have PDD. Psychiatric symptoms, family history, and developmental and educational histories were examined. Of the 146 patients, 20 (14 percent) met criteria for PDD. An additional five patients who had PDD were included, yielding a final sample of 25. Only two of an array of psychiatric symptoms were more prevalent among patients with PDD: engaging in unusual fantasy and talking to themselves, animals, or inanimate objects. Significantly more patients with PDD had a history of speech delay, language abnormalities, and inexplicable or lengthy episodes of crying or screaming. The groups did not differ significantly in IQ or global functioning. Seven patients with PDD (28 percent) met criteria for childhood-onset schizophrenia, and 19 (76 percent) had symptoms of a tic disorder. The study found that PDD is not rare and that children with PDD represent a significant subgroup of children with serious emotional disturbance referred for psychiatric treatment. The findings support the view that PDD may be easily missed because it may be mild and associated with psychiatric disturbances that are present among other severely ill youngsters.

Infantile Autism in Monozygotic Twins

A pair of monozygotic twins concordant for early infantile autism is described. Both twins had low birth weight and postnatal cyanosis. They also suffered from epilepsy. The second twin had a lower birth weight and had to be kept in an incubator for 18 days. The twins' older brother had a history of speech delay. It seems that both genetic inheritance and brain damage were the main etiological factors for autism in both twins. Journal of the American Academy of Child Psychiatry, 24, 5:643–646, 1985.