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Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)
A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)
Subject(s)
Humans , Male , Child , Chromosomes, Human, Pair 7/genetics , Developmental Disabilities/genetics , Williams Syndrome/genetics , Chromosome Duplication , Language Development Disorders/genetics , Intellectual Disability/genetics , Developmental Disabilities/diagnosis , Developmental Disabilities/metabolism , Genetic Testing , Williams Syndrome/diagnosis , Williams Syndrome/metabolism , Language Development Disorders/diagnosis , Intellectual Disability/diagnosis , Intellectual Disability/metabolismABSTRACT
Peroxisome biogenesis disorder are related to spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterized by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. We report a case of Zellweger syndrome, confirmed by clinical, biochemical and molecular findings, diagnosed in context of dysmorphism, and seizures.
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ObjectiveTo discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozygous loss. MethodsA retrospective analysis was conducted on the clinical data of one child with global developmental delay， and the results of low depth whole-genome copy number variation sequencing （CNVseq） and family whole exome sequencing （WES） of the child and his parents. ResultsThe patient was a 10-month-old male with developmental retardation in four areas， with some special features （ocular hypertelorism， strabismus， flat nose bridge， protruding forehead， cleft palate， high palatal arch， etc.） and hypotonia of limbs. The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss. Because this region contains the gene SUFU associated with basal cell nevus syndrome and the gene CNNM2 associated with hypomagnesemia， seizures， and mental retardation， and the gene TRIM8 associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome， we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of SUFU gene and CNNM2 gene and TRIM8 gene. ConclusionGenetic testing should be improved as soon as possible for children with global developmental delay and special facial manifestations， so as to make clear diagnosis and to judge prognosis.
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Objective:To investigate the characteristics of executive function of preschool children with high functioning autism spectrum disorder (HFA) and with global developmental delay (GDD), and the differences among HFA, GDD and typically developmental (TD) children.Methods:From January 2020 to January 2021, 20 male HFA, 20 male GDD and 20 male TD children aged 4-6 years who visited the Psychological Behavior Clinic of the Child Health Department of Guiyang Maternal and Child Health Hospital and the Developmental Behavior Clinic of the Children Health Department of the Ninth People's Hospital in Chongqing were selected for comparative study.The executive function of HFA, GDD and TD children was assessed with the behavior rating scale of executive function-preschool version(BRIEF-P) and the executive function task program (EF-TOUCH). SPSS 26.0 software was used for statistical analysis, including variance test, independent sample t-test, χ2 test, Kruskal Wallis test and Mann-Whitney U test. Results:In the EF-TOUCH program task, the accuracy of the three groups of children's performance in the pig task (Pig), the silly sounds game (SSG), the working memory task (pick the picture, PTP) and the task of cognitive flexibility (something's the same, STS) were statistically different(Pig: HFA group: 0.87(0.76, 0.99), GDD group: 0.97(0.85, 0.99), TD group: 1.00(0.98, 1.00), χ2=15.646, P<0.001; SSG: HFA group: 0.76(0.53, 0.91), GDD group: 0.76(0.65, 0.99), TD group: 0.94(0.76, 1.00), χ2=6.448, P=0.040; PTP: HFA group: 0.66±0.18, GDD group: 0.66±0.19, TD group: 0.78±0.11; F=3.221, P=0.048; STS: HFA group: 0.67(0.63, 0.70), GDD group: 0.72(0.46, 0.78), TD group: 0.87(0.83, 0.90), χ2=26.898, P<0.001). The accuracies of Pig, SSG, PTP and STS in HFA group were significantly lower than those in TD group(all P<0.05), and the accuracies of Pig and STS in GDD group were significantly lower than those in TD group(both P<0.05). In inhibition control, there were statistically differences in response time of Pig and SSG among the three groups (Pig: HFA group: (1 694.36±222.83)ms, GDD group: (1 513.46±244.91)ms, TD group: (1 444.84±197.95)ms, F=5.810, P=0.005; SSG: HFA group: (2 202.42±195.58)ms, GDD group: (2 116.52±323.27)ms, TD group: (1 937.17±252.74)ms, Z=4.610, P=0.014). There were no significant differences in the reaction time of Arrows task ( P>0.05). There were significant differences in BRIEF-P inhibition control, organizational planning, inhibition self-regulation, cognitive flexibility and total scores among the three groups ( P<0.05), while there were no significant differences in the scores of other factors and dimensions ( P>0.05). Conclusion:The executive function of pre-school children with high functioning autism spectrum disorder and children with global developmental delay is impaired.The executive function of children with high functioning autism spectrum disorder and children with global developmental delay is significantly different from that of typically developmental children of the same age.Moreover, the executive function of children with HFA is more severely damaged from all components than that of children with GDD.
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Resumen Los trastornos del neurodesarrollo (TND) constituyen un grupo relevante de enfermedades, con base biológica y etiología total o parcialmente genética. El reconocimiento de los factores causales cons tituye un reto cuyos resultados se han perfeccionado a lo largo de las últimas décadas, hasta obtener un rédito diagnóstico cada vez mayor. La implementación de estos avances tecnológicos solo puede lograrse mediante la conformación de equipos de trabajo interdisciplinarios, que siguiendo un proceso ordenado, logran un diag nóstico de presunción, que luego es certificado mediante las técnicas que, para cada uno de los casos, resulta más redituable en calidad y costo. En este trabajo, enumeramos estos procedimientos a partir de diferentes escenarios que ponen de relieve el extenso menú de posibilidades y la necesidad de administrar los mismos de un modo racional, sobre bases científicas debidamente fundadas.
Abstract Neurodevelopmental disorders (NDD) constitute a relevant group of pathologies, of childhood, with a biological basis and totally or partially genetic etiology. The recognition of the causal factors constitutes a challenge that has been perfected over the last decades, until obtaining an increasing diagnostic yield. The implementation of these technological advances can only be achieved through the formation of interdisciplinary work teams, which, following an or derly process, achieve a presumptive diagnosis, which is then certified using the techniques that for each of the cases are more profitable in terms of quality and cost. In this paper we list these procedures, based on different scenarios that highlight the extensive menu of possibilities and the need to manage them in a rational way, on well-founded scientific bases.
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Objective:To analyze the characteristics of vocabulary and phrase acquisition in Mandarin-exposed children with autism spectrum disorder (ASD), intellectual developmental disability (IDD) or general developmental delay (GDD) in rehabilitation training institutions, and to provide a basis for selecting training vocabulary for ASD children.Methods:A cross-sectional study was carried out on 75 cases of 1-6-year-old children with neurodevelopmental disorders of ASD (the ASD group), IDD and GDD [the developmental disability(DD) group] by using a self-designed questionnaire containing nouns, verbs, adverbs, adjectives and pronouns, 464 words in total.The participants were recruited from Department of Rehabilitation Medicine, Beijing Shouer Liqiao Children′s Hospital and Beijing Shunyi District Shouer Yazhi Children′s Rehabilitation Center from March 2019 to February 2020.Effective co-mmunication vocabulary was obtained." Children Neuropsychological and Behavioral Scale, Revision 2016" was used for developmental evaluation.At the same time, 37 children with normal development and equivalent intellectual age [the typical development(TD) group] were recruited from the outpatient department of children′s Health Department of Children′s Hospital, Capital Institute of Pediatrics as a control group.The rank sum test or chi- square test was used for data analysis. Results:There were 31 children in the ASD group, with a median chronological age of 36.0 (27.0-59.0) months and median mental age of 20.6 (12.0-35.0) months.There were 44 children in the DD group, with a median chronological age of 37.0 (12.0-77.0) months and median mental age of 24.3 (6.0-56.0) months.There were 37 children in the TD group, with a median chronological age of 20.0 (10.0-61.0) months and median mental age of 21.9 (12.0-55.0) months.No significant difference was found in the mental age among the 3 groups ( χ2=0.718, P=0.698). The total development quotients of the ASD group and the DD group were 56 (36-83) and 68 (17-92), respectively, which were significantly lower than that of the TD group [99 (79-128)] ( χ2=45.234, 48.583; all P<0.001). Developmental assessment subscales: the developmental quotients of gross motor, fine motor, adaptive ability, language and social behavior as well as communication warning behavior indices in the ASD group were 77, 52, 60, 39, 52 and 40, respectively; the above scores in the DD group were 75, 64, 73, 60, 60 and 8, respectively.The developmental levels of the ASD group in all the above 6 aspects, except for the gross motor, were significantly lower than those of the DD group ( χ2=5.763, 5.172, 11.174, 6.108, 41.917; all P<0.05). The effective communication vocabulary was 10 in the ASD group, 174 in the DD group and 146 in the TD group, and the difference was significant ( χ2=12.785, P=0.002). The ratio of children that could speak phrases was 9.7%in the ASD group, 29.5%in the DD group, and 51.4% in the TD group.The difference was significant ( χ2=13.733, P=0.001). Based on the analysis of the effective communication vocabulary, the number of effective communication words was none in the ASD group, only 1 in the DD group and 49 in the TD group if taking that more than 75% of the children could speak the word as the statistical cut-off point.If taking that 50%-<75% of the children could speak the word as the cut-off point, the number of effective communication words was only 6 (Mama, Baibai, Baba, Baobao, Men, and Bu successively) in the ASD group, 187 in the DD group, and 71 in the TD group.If taking that 25%-<50% of the children could speak the word as the cut-off point, the number of effective communication words was 112, 183 and 103 in ASD, DD and TD groups, respectively.There was a statistically significant difference in the number of effective communication words among the three groups ( χ2=456.694, P<0.001). Matching the effective communication vocabulary that more than 25% of the children in the ASD group could speak with that that more than 50% of the children in the TD group could speak, there were 93 overlapping words, accounting for 78.8%(93/118) of the ASD group and 77.5%(93/120) of the TD group.In the overlapping words, nouns accounted for 67.7%(63/93) and verbs accounted for 26.9%(25/93). Conclusions:The vocabulary acquired by children with ASD and DD is similar to that by TD children of the same mental age.However, ASD children have extremely low vocabulary expression and comprehension ability.The effective communication words of ASD and TD children overlap at different percentages.These overlapping words provide a basis for optimizing the selection of training vocabulary.Training vocabulary dominated by nouns and verbs may help to improve the effect of intervention training in ASD children.
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Objective:To evaluate the efficacy and safety of modified Atkins diet (MAD) in treating global growth retardation (GDD).Methods:A prospective multicenter clinical controlled study was conducted.The children were included from 8 departments of children′s rehabilitation in Henan Province from July 2017 to October 2017.A total of 154 children who met the inclusion criteria were randomly assigned into the routine treatment group (88 cases) and MAD therapy group (66 cases). A total of 62 children in MAD therapy group and 59 children in routine treatment group completed the study for 15 months.The routine treatment group was provided comprehensive rehabilitation training, and the MAD therapy group was given MAD treatment on the basis of rehabilitation training.Two-way repeated-measures ANOVA was used to compare the differences among datas at different time points. Results:After 3 months, there were significant differences in the scores of the Chinese Version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Children′s Behavior Scale (CBCL) between the 2 groups (all P<0.05). Significant improvement was seen in the MAD group.After 6 months, the MAD therapy group had significantly higher scores on the Gesell Developmental Scale for language and social behavior than the routine treatment group (all P<0.05). After 9 months, the scores of the children in the MAD therapy group were better than those in the routine treatment group in the Gesell Developmental Scale adaptive energy area and the infant-junior high school student social life scale (S-M scale), and the differences were statistically significant (all P<0.05). After 15 months, the fine motor in the MAD therapy group was better than that in the routine treatment group ( P<0.05). At the early stage of MAD therapy, 28 patients showed mild adverse reactions that were reversed after symptomatic treatment.No severe adverse reactions were observed. Conclusions:MAD therapy can improve the neuro-development, emotional and social behaviors, and adaptive behaviors with no severe adverse effects.
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Objective:To observe the clinical efficacy of the rehabilitation technique of "regulating abdomen and dredging collaterals" in the treatment of children with global developmental delay (GDD), and to provide clinical experience and basis for promoting the rehabilitation treatment of GDD.Methods:Eighty-two children with GDD were selected and divided equally into the control and the treatment group according to the random number table method. The control group received conventional rehabilitation treatment, and the treatment group received "regulating abdomen and dredging collaterals" rehabilitation treatment on the basis of the conventional rehabilitation treatment. The duration of treatment for both groups was 5 times a week for 3 months. The developmental quotient (DQ) of the children in both groups was recorded using the Geselll Developmental Scale as an assessment tool to observe the scores of the five functional areas, i.e. gross motor, fine motor, language, adaptive, and personal-social.Results:At the end of the treatment, the DQ values of the children in both groups improved significantly in each energy area (all P<0.05). The treatment group outperformed the control group in terms of total effective rate and gross motor, language, and adaptability (all P<0.05), while the differences between the two groups in fine motor and personal-social energy areas were not statistically significant (all P>0.05). Conclusions:The "regulating abdomen and dredging collaterals" rehabilitation technique is clinically effective in the treatment of GDD, with significant improvement in gross motor, language, and adaptive energy areas.
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Objective:To explore the early-stage language characteristics of children with autism spectrum disorder (ASD), global developmental delay (GDD), and developmental language disorder (DLD) at the same deve-lopmental level, thus providing references for their diagnosis.Methods:Clinical data of 719 children, involving 382 ASD patients, 198 DLD patients and 139 GDD patients presented to the Children′s Hospital Affiliated to Chongqing Medical University from January 2018 to January 2020 were retrospectively analyzed. Chi- square test was used to compare the developmental distribution of 3 groups.Variance analysis was used to analyze difference of developmental levels among 3 groups.Correlation analysis was used to analyse relationship between language and nonverbal abilities.At the same developmental, student′s t test was used to compare ASD with GDD, ASD with DLD in language ability, and difference of expression with receptive and visual related language. Results:The nonverbal developmental levels of ASD, GDD, DLD children were significantly different ( χ2=414.64, P<0.01). Language abilities were correlated with non-verbal developmental levels( r=0.60, P<0.05). The receptive and visual-related language abilities of ASD children with abnormal developmental level were more delayed compared with that of expressive language ( t=6.97, 3.58, 13.29, 6.85, 9.09, 7.27, all P<0.01). Expressive language of DLD children with normal developmental level was worse than visual-related and receptive language( t=-2.21, -3.61, all P<0.05). In GDD children with mild delayed development, receptive language was worse than expressive and visual-related language ( t=4.12, -4.24, all P<0.01), GDD children with moderate and worse development had worse visual-related and receptive language than the expression ( t=2.46, 2.68, all P<0.01). No significant differences in the expressive, receptive and visual-related language were detected in ASD and DLD children with normal development level and those with delayed development level (all P>0.05). Receptive and visual related language of ASD children with marginal delayed development level were significantly worse than those of DLD children ( t=-4.64, -4.60, all P<0.01), whereas no significant diffe-rence in the expression was detected ( P>0.05). In ASD children with mild delayed developmental level, the receptive and visual-related language were worse than those of GDD children( t=-4.11, -4.68, all P<0.01), whereas no significant difference in the expression was detected ( P>0.05). Conclusions:In early childhood, ASD children with abnormal developmental levels present severe delay in receptive and visual related language.DLD children with normal development have an obvious delay in expressive language.The language abilities of GDD children are globally delayed, especially the receptive language.In the marginal and mild delayed developmental level, ASD is featured by obvious delay of receptive and visual-related language.In normal and worse delayed development levels, the development of language in ASD, DLD and GDD children is similar.
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Introducción: Existen pocos estudios sobre la evolución del retraso global del desarrollo (RGD), por lo que se cuestiona su valor pronóstico. Objetivo: Describir la evolución cognitiva en la edad escolar de niños con diagnóstico inicial de RGD. Pacientes y Métodos: Estudio observacional, transversal, con análisis prospectivo y retrospectivo. Fueron incluidos niños de seis a once años de edad, con diagnóstico previo de RGD. La variable punto final fue la presencia o no del déficit cognitivo (menor a dos desvíos estándares en las pruebas cognitivas), se realizó análisis con el paquete estadístico R. Resultados: Se estudiaron 150 pacientes con diagnóstico inicial de RGD, 86 con compromiso leve y 64 moderado-severo. El déficit cognitivo persistió en 75 pacientes (50%), 34.8% en el grupo leve y 70.3% en el moderado-severo Del resto, un 13% tuvo rendimiento promedio, un 20%, limítrofe y el 17% perfil discrepante. El análisis univariado identificó cuatro factores de riesgo asociados a persistencia del compromiso cognitivo: el grado de compromiso inicial moderado/severo (OR 4,59, 2,24-9,78), el tiempo de tratamiento menor a tres años (OR 2,30 1,02-5,34), las necesidades básicas insatisfechas (OR 1,62 0,76-3,47) y la presencia de síndrome genético (OR 2,99 1,09-8,99). El modelo de regresión logística con mayor poder explicativo incluyó estas cuatro variables (p 0.9998). Conclusiones: La trayectoria cognitiva mostró un 50 % de persistencia del déficit cognitivo. El grado de compromiso inicial, la duración del tratamiento, las necesidades básicas insatisfechas y la presencia de un síndrome genético asociado mostraron asociación con la persistencia del mismo (AU)
Introduction: Studies on the outcome of global developmental delay (GDD) are scarce, and therefore, their prognostic value is questionable. Objective: To describe the cognitive outcome at school age of children initially diagnosed with GDD. Patients and Methods: Cross-sectional, observational study with a prospective and retrospective analysis. Children between six and 11 years of age with a previous diagnosis of GDD were included. The endpoint variable was the presence or not of a cognitive deficit (two standard deviations below the mean on cognitive tests). Analyses were performed using the R Statistical Software. Results: 150 patients with an initial diagnosis of GDD were studied, 86 with mild and 64 with moderate-to-severe involvement. The cognitive deficit persisted in 75 patients (50%); 34.8% of whom were in the mild and 70.3% in the moderate-to-severe group. Of the remaining patients, performance was average in 13%, borderline in 20%, and the profile was discrepant in 17%. Univariate analysis identified four risk factors associated with persistence of the cognitive deficit: initial moderate-to-severe degree of the deficit (OR 4.59, 2.24-9.78), treatment duration less than three years (OR 2.30, 1.02-5.34), unsatisfied basic needs (OR 1.62, 0.76- 3.47), and presence of a genetic syndrome (OR 2.99, 1.09-8.99). The logistic regression model with the strongest explanatory power included these four variables (p 0.9998). Conclusions: In 50% the cognitive course showed a persistent cognitive deficit. The degree of initial compromise, treatment duration, unsatisfied basic needs, and presence of a genetic syndrome were associated with persistence of the deficit. (AU)
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Humans , Child , Child Development , Child Development Disorders, Pervasive/complications , Child Development Disorders, Pervasive/diagnosis , Risk Factors , Intellectual Disability/diagnosis , Prospective Studies , Retrospective StudiesABSTRACT
Objective:To investigate the clinical, imaging and genetic features of patients with global developmental delay combined with epilepsy and striatal degeneration caused by POLR3A gene mutations.Methods:A total of three patients from two families with non-consanguineous marriages admitted to the Department of Pediatric Neurology of Xiangya Hospital of Central South University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole-exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:All three patients presented with global developmental delay, seizures, dystonia. Head magnetic resonance imaging of all patients suggested basal ganglia atrophy and striatal degeneration. All had compound heterozygous mutations of c.1980 G>C; c.1771-6 C>G and c.2044C>T; c.1771-7 C>G in POLR3A gene as indicated by whole-exome sequencing. Sanger sequencing validation confirmed that the compound heterozygous mutations were originated from the parents of probands from the two families, respectively. Bioinformatic analysis suggested pathogenic features of the mutations.Conclusions:Compound heterozygous mutations in POLR3A gene , including a splice site mutation result in global developmental delay combined with epilepsy, striatal degeneration. Clinicians should promote the awareness of POLR3 related spectrum disorders, thus make early recognition and diagnosis.
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A patient with global developmental delay and facial abnormality treated in Hunan Maternal and Child Health Care Hospital in September 2018 was diagnosed as a typical Say-Barber-Biesecker/Young-Simpson syndrome (SBBYSS)accompanied with comprehensive clinical manifestations and genetic testing was carried out.The patient carries a heterozygous synonymous mutation of KAT6B gene (NM_012330.3)c.3147G>A (p.P1049P), thus leading to the formation of a new cleavage site (receptor) and forming a new truncated protein.In Chinese, this is the second typical SBBYSS that has been identified and the first prenatal genetic diagnosis has been performed.This study has broadened the mutation spectrum of SBBYSS caused by the mutation of KAT6B gene in Chinese population.
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OBJECTIVES@#To study the clinical effect of mouse nerve growth factor (mNGF) in the treatment of children with global developmental delay (GDD).@*METHODS@#A prospective clinical trial was conducted in 60 children with GDD who were treated in the First Affiliated Hospital of Anhui Medical University between July 2016 and July 2017. These children were randomly divided into two groups: conventional rehabilitation treatment and mNGF treatment group (@*RESULTS@#Before treatment and after 1.5 months of treatment, there was no significant difference in the developmental quotient (DQ) of each functional area of the Gesell Developmental Scale between the mNGF treatment and conventional rehabilitation treatment groups (@*CONCLUSIONS@#In children with GDD, routine rehabilitation training combined with mNGF therapy can significantly improve their cognitive, motor, and social abilities.
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Animals , Mice , Epilepsy , Prospective Studies , Social SkillsABSTRACT
Objective@#To delineate the clinical features, inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*Methods@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization(FISH) were employed for the analysis of the proband and his family members.@*Results@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*Conclusion@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family.P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.
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Background: Developmental disabilities occur in approximately 5-10% of the childhood population. The paucity of data regarding the burden and risk factors slows down the programs and policymaking actions for these highly prevalent conditions in developing countries.Methods: A retrospective review of records of 264 children below 12 years referred to CGC of a Tertiary Care Hospital from November 2016 to December 2018 was done. Data was analysed using SPSS software and is described in terms of frequency and mean.''''Results: 264 new cases that were referred to the CGC were enrolled. The mean age of referral was 2.54 yrs. ('1.00) with M: F ratio being 1.4:1. In religion, Hindu predominance (56.4%) was found.76.5% hailed from urban area. 39% of all cases showed Consanguinity.37% belonged to Class IV(Upper Lower) and 89% had chronic malnutrition. 46.2% of cases had NICU stay of which perinatal asphyxia(PA) was found in 40%.Majority of children (45.7%) had Global developmental delay (GDD)/Mental Retardation (MR), 37.7% had various forms of CP, Attention Deficit Hyperactivity Disorder(ADHD) was seen in 13%, 3.4% had Autism, 4.5% had specific language disorder, Learning disability' was seen in 2.7% and only 2.7% had Isolated motor delay.Conclusions: Early Intervention services for children lag behind in developing countries and the proportion of children referred to CGC with severe disabling conditions is high. This study provides baseline data for further planning of services and interventions for these children in Maharashtra.
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Background: Developmental disabilities are a group of related chronic disorders of early onset estimated to affect 5–10% ofchildren. Global developmental delay is a subset of developmental disabilities defined as a significant delay in two or more of thefollowing developmental domains: Gross/fine motor, speech/language, cognition, social/personal, and activities of daily living.Aim of the Study: The aim of this study was to describe the clinical profile and audiological profile in children with globaldevelopmental delay presenting to the pediatric ENT unit.Materials and Methods: The study sample size was a total of 121 children with global developmental delay. Children withcomplaints of global developmental delay underwent a detailed ENT examination including examination under microscope ofear which is the standard of care. Hearing loss was assessed by audiological tests such as behavioral observation audiometry(BOA), otoacoustic emission, brain stem evoked response audiometry (BERA), and tympanometry (Tymps). The degree ofhearing loss was classified using the American Speech-Language-Hearing Association classification.Observations and Results: Among 121 children with global developmental delay, there were 72 (59.5%) males. The meanage of the study group was 3.2 years. The youngest child in the study was 6 months old and the oldest child being 14 yearsold. 25 (20.6%) children participating in the study had syndromic association. Of 121 children, only 36 (29%) presented withspeech delay and suspected hearing loss. BOA done in 242 ears showed 56 (23%) ears with normal hearing, 68 (28%) withhearing loss, and inconsistent report in 38 (15.5%) ears. In the 80 remaining ears (33%), test could not be done.Conclusions: The mean age of referral was 3.2 years in global developmental delay children who were referred for theevaluation of speech delay. Among the 121 global developmental delay children included in the study, 36 (29%) had hearingloss with speech delay. Our study detected a higher incidence of undetected hearing loss of 144 ears (59.5%) in children withglobal developmental delay
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Background@#Advanced technology has become a valuable tool in etiological studies of intellectual disability/global developmental delay (ID/GDD). The present study investigated the role of genetic analysis to confirm the etiology in ID/GDD patients where the cause of the disease was uncertain in central China.@*Methods@#We evaluated 1051 ID/GDD children aged 6 months to 18 years from March 2009 to April 2017. Data concerning basic clinical manifestations were collected, and the method of etiology confirmation was recorded. Genome-wide copy number variations (CNVs) detection and high-throughput sequencing of exons in the targeted regions was performed to identify genetically-based etiologies. We compared the incidence of different methods used to confirm ID/GDD etiology among groups with differing degrees of ID/GDD using the Chi-square or Fisher exact probability test.@*Results@#We recruited 1051 children with mild (367, 34.9%), moderate (301, 28.6%), severe (310, 29.5%), and profoundly severe (73, 6.9%) ID/GDD. The main causes of ID/GDD in the children assessed were perinatal factors, such as acquired brain injury, as well as single gene imbalance and chromosomal gene mutation. We identified karyotype and/or CNVs variation in 46/96 (47.9%) of cases in severe ID/GDD patients, which was significantly higher than those with mild and moderate ID/GDD of 34/96 (35.4%) and 15/96 (15.6%), respectively. A total of 331/536 (61.8%) patients with clear etiology have undergone genetic analysis while 262/515 (50.9%) patients with unclear etiology have undergone genetic analysis (χ2 = 12.645, P < 0.001). Gene structure variation via karyotype analysis and CNV detection increased the proportion of children with confirmed etiology from 51.0% to 56.3%, and second-generation high-throughput sequencing dramatically increased this to 78.9%. Ten novel mutations were detected, recessive mutations in X-linked genes (ATPase copper transporting alpha and bromodomain and WD repeat domain containing 3) and dominant de novo heterozygous mutations in X-linked genes (cyclin-dependent kinase like 5, protocadherin 19, IQ motif and Sec7 domain 2, and methyl-CpG binding protein 2) were reported in the study.@*Conclusions@#The present study indicates that genetic analysis is an effective method to increase the proportion of confirmed etiology in ID/GDD children and is highly recommended, especially in ID/GDD children with uncertain etiology.
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More than 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI). From the synthesis of GPI anchors, binding to proteins to localization on cell membranes, these processes are regulated by a wide range of genes, including PIG genes such as PIGA, PIGB, PIGC, and PGAP genes such as PGAP1, PGAP2, etc.Recently, the number of reports about PIG/PGAP gene related diseases is increasing but rarely reported in China.Now, the inheritance and clinical features, treatment and genotype/phenotype associated with PIG/PGAP gene related diseases, were reviewed.
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More than 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI).From the synthesis of GPI anchors,binding to proteins to localization on cell membranes,these processes are regulated by a wide range of genes,including PIG genes such as PIGA,PIGB,PIGC,and PGAP genes such as PGAP1,PGAP2,etc.Recently,the number of reports about PIG/PGAP gene related diseases is increasing but rarely reported in China.Now,the inheritance and clinical features,treatment and genotype/phenotype associated with PIG/PGAP gene related diseases,were reviewed.
ABSTRACT
Objective To discuss the main high-risk factors,clinical features and prognosis of global developmental delay(GDD),so as to provide effective basis for reducing incidence of children with GDD,early diagnosis,early intervention and improving prognosis.Methods One hundred and eighty-five cases of children with GDD,who were first diagnosed and treated in the Pediatric Neurology Rehabilitation Center,the First Affiliated Hospital of Anhui Medical University from October 2011 to September 2013,were included and high-risk factors,clinical features,and prognosis were analyzed.At the same time,the patients were followed up for 2 years and the children with abnormal development received continuous intervention and treatment during the follow-up.x2 test was used to compare high-risk factors and prognosis of different clinical features and Logistic regression models were selected to analyze high-risk factors influencing prognosis.Results In 185 cases with GDD,there were 119 children (64.3％) with motor and language developmental delay,which were the most common features,and followed by types of motor combined cognitive and language developmental delay which make up 30 cases (16.2％) and cognitive merged language developmental delay which make up 22 cases (11.9％) and the rarest type of 14 cases (7.6％) was motor and cognitive developmental delay.The main high-risk factors included neonatal asphyxia,premature birth,pathologic jaundice,intrauterine growth retardation,intrauterine hypoxia,neonatal hypoxic-ischemic encephalopathy (HIE),neonatal infection and pregnancy-induced hypertension syndrome and the differences of various clinical features with premature birth,intrauterine growth retardation,pathologic jaundice were statistically significant.Up to 2 years of follow-up,40 cases (21.6％) turned normal,but 145 children (78.4％) were still abnormal,including 97 children (52.5％) having significantly improved after intervention,30 cases(16.2％)of intellectual developmental disorder and 18 cases (9.7％) of cerebral palsy.The differences in various clinical features showed statistically significance (x2=60.960,P=0.017).The main high-risk factors affecting prognosis were intrauterine growth retardation [β=0.777,odds ratio (OR)=2.174],intrauterine hypoxia (β=0.706,OR=2.026),HIE(β=0.547,OR=1.729) and neonatal asphyxia (β=0.070,OR =1.073).Conclusion Causes of GDD are complex and prognosis is poor and the etiology and prognosis of children with different clinical features are also different.It is important to enhance perinatal care,early diagnosis and intervention for reducing the incidence of GDD and improving prognosis.