¿Qué puede esconder el retraso global del desarrollo? A propósito de un caso de causa genética / What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause

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)

A-case-report-of-zellweger-syndrome-with-global-deveopmental-delay

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.

Diagnostic Methods of Global Developmental Delay Caused by 10q24.3 Heterozygous Loss： A Case Discussion / 中山大学学报(医学科学版)

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.

Börjeson -Forssman -Lehmann syndrome: A case report / 中南大学学报(医学版)

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.

Heterogeneidad clínica y molecular en los trastornos asociados con CDKL5 / Clinical and molecular heterogeneity in CDLK5 disorders

Resumen Introducción: El síndrome por deficiencia de CDKL5 es originado por variantes patogénicas en el gen CDKL5, con un espectro clínico variable que va desde pacientes con características del trastorno del espectro autista hasta epilepsia de inicio temprano y refractaria al tratamiento. Inicialmente fue considerado como una forma atípica de síndrome de Rett. Casos clínicos: Presentamos tres pacientes no relacionadas, evaluadas por retraso global del desarrollo y epilepsia refractaria. Los tres casos eran hemicigotos a una variante patógena de CDKL5. En una paciente se realizó panel de 306 genes asociados con epilepsia; en las otras dos se realizó microarreglo genómico comparativo. Las características clínicas y los hallazgos en el electroencefalograma y la resonancia magnética cerebral se han descrito clásicamente en el espectro de manifestaciones de este síndrome. Conclusiones: El síndrome por deficiencia de CDKL5 representa un reto para los médicos, ya que en muchos casos las manifestaciones clínicas y los estudios electroencefalográficos y de neuroimagen pueden ser inespecíficos. Debe sospecharse este síndrome ante la presencia de retraso global del desarrollo, fenotipo conductual autista y epilepsia, asociado o no con dismorfias. Dada la similitud entre diversas encefalopatías epilépticas, se deben solicitar paneles multigénicos que incluyan la secuenciación y el análisis de duplicación/deleción en los que se contemple este gen y sus posibles diagnósticos diferenciales, aunque sin olvidar la utilidad de las técnicas genómicas en casos poco claros.

Abstract Background: CDKL5 deficiency syndrome is caused by pathogenic variants in the CDKL5 gene, with a variable clinical spectrum ranging from patients with characteristics of autism spectrum disorder to early-onset epilepsy refractory to treatment. Initially, until the gene was discovered, it was considered an atypical form of Rett syndrome. This study aimed to describe the clinical and molecular heterogeneity in CDLK5 disorders among three female patients with CDKL5 pathogenic variants. Case reports: We reported three unrelated Mexican female patients evaluated for global developmental delay and epilepsy. All three cases were hemizygotes to a CDKL5 pathogenic variant. In one patient, we performed a 306 gene panel associated with epilepsy. In the other two cases, a human genomic microarray was performed. We describe their clinical features electroencephalogram and brain magnetic resonance evaluations. Conclusions: CDKL5 deficiency syndrome represents a challenge for clinicians since the clinical manifestations, electroencephalographic and neuroimaging studies can be non-specific. This syndrome should be suspected in the presence of global developmental delay, autistic behavioral phenotype and epilepsy, associated or not with dysmorphia. Given the similarity between various epileptic encephalopathies, multigene panels including sequencing and duplication/deletion analysis should be requested in which this gene and its possible differential diagnoses are considered, without forgetting the usefulness of genomic techniques in unclear cases.

Characterization of the SRD5A3-CDG Clinical Spectrum

Abstract We aimed to characterize the clinical spectrum of patients diagnosed with SRD5A3-CDG, a subtype of congenital disorders of glycosylation (CDG) due to variants in the steroid 5a-reductase type 3 (SRD5A3) gene. It presents with multi-systemic involvement including neurological disability, dermatologic abnormalities, and ophthalmological defects. We conducted a cross-sectional study of children (n=6, ages 4-16 years) with a confirmed diagnosis of SRD5A3-CDG (c.57G>A, p.W19X). Families completed a detailed medical history questionnaire, two quality of life measures, and an adaptive behavior scale. Prevalent clinical features in our cohort included visual impairment (6/6), developmental delay (6/6), nystagmus (5/6), retinal dystrophy (4/6), and hypotonia (3/6). The Vineland Adaptive Behavior Scales demonstrated deficits across all functional domains (Composite Mean 36.17 ± 26.88), although one child did not show significant deficits. The QI-Disability Form demonstrated a mean total score of 64.8 (±12.7), and the PedsQL-Family Impact Module demonstrated a mean total score of 56.5 (±31.5). Vineland composite scores did not correlate with levels of disability captured by the QI-Disability Form (Pearson Correlation range -0.63 to +0.69, p>0.05 on all subscales). Ultimately, despite genotypic homogeneity, there is notable variability in adaptive functioning and quality of life among affected children that does not correlate with age.

Status and trend analysis of neuropsychological development of children aged 0‒2 in Tongzhou， Beijing， 2017‒2021 / 上海预防医学

ObjectiveTo describe the neuropsychological development screening of 0‒2 years in Tongzhou from 2017 to 2021 so as to understand the status and trend of developmental delay （DD）. MethodsAnnual report data of 21 community health service centers in Tongzhou District from 2017 to 2021 were clustered， Chi square test was used to analyze the differences in positive rate and DD rate of children aged 0‒2 years with different ages and household registration， and Chi square trend test was used to analyze the linear trend of each age group and household registration. The Gesell test results in 762 children with developmental delay were analyzed， and Chi square test was used to compare the age distribution differences in gross motor， fine motor， language and personal-social behaviors. ResultsThe DD rate of children aged 0‒2 years in 2017‒2021 was 0.43％. A decreasing trend of DD rate in the 0‒ age group was observed （χ2=14.135， P<0.001）， while an increasing trend of DD rate in the 1‒ and <3 age groups was observed （χ2=5.375， P=0.020； χ2=5.558， P=0.018）. The DD rate of children aged 0‒2 years with Beijing household registration was higher （χ2=12.504， P<0.001）. The DD rate of gross motor was the highest in the 0‒ age group （64.60%）， the DD rate of language was the highest in the <3 age group （85.97%）， and a statistically significant difference of gross motor and language was separately found in the three age groups （χ2=183.061， P<0.001； χ2=78.450， P<0.001）. ConclusionAge and Beijing household registration are the influencing factors of DD for children aged 0‒2， and 0‒ years and <3 years are the critical periods for guidance and intervention to promote the development of gross motor and language abilities.

A case report of mitochondrial enoyl-CoA hydratase short chain 1 deficiency caused by enoyl-CoA hydratase short chain 1 gene mutation / 中华神经科杂志

Objective:To summarize the clinical features and gene mutation characteristics of a child with mitochondrial enoyl-CoA hydratase short chain 1 deficiency (ECHS1D) caused by enoyl-CoA hydratase short chain 1 ( ECHS1) gene mutation. Methods:The clinical characteristics and genetic test results of a child with ECHS1D who visited the Department of Neurology of Xuzhou Children′s Hospital in January 2021 were retrospectively analyzed, and the clinical features of the disease were also reviewed by searching relevant domestic and foreign literature.Results:The child was a 6 months and 4 days old male, with acute onset, the main clinical manifestation being limb movement disorder after admission. The child had slow motor development, his head was still upright and cannot turn over, the child also cannot sit alone, follow up and make a laugh, and the muscle tension of limbs was increased. The child′s blood lactate was increased to 6.2 mmol/L, which suggested metabolic acidosis, and magnetic resonance imaging (MRI) of the head showed abnormal signals in the basal ganglia on both sides, abnormal enhancement of the meninges of the left cerebral hemisphere. Whole exome sequencing revealed that the child had compound heterozygous mutations in ECHS1 gene, c.563C>T (p.A188V) and c.5C>T (p.A2V), respectively. The child′s father carried c.563C>T mutation, the mother carried c.5C>T mutation, all of which were missense mutations. Conclusions:ECHS1 gene mainly has missense mutations, most of which are compound heterozygous mutations, and a few are homozygous mutations. The ECHS1D caused by ECHS1 gene mutation often affects infants and young children. MRI suggests abnormal signals in the basal ganglia; for cases with the above clinical manifestations and abnormal signals in the basal ganglia on MRI, genetic testing should be considered to confirm the diagnosis.

Clinical characteristics and gene analysis of SMC1A gene related disorders / 中华神经科杂志

Objective:To analyze the clinical characteristics and genetic features of SMC1A gene related disorders. Methods:The data of 5 children with SMC1A gene variants were collected from Children′s Hospital of Fudan University from February 2018 to January 2022. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results:Among the 5 patients, 4 are females and 1 is male. Two female cases are siblings. One boy had dysmorphic features, consisting of bilateral ptosis, synophrys, a short nose and upturned nasal tip. He also had patent foramen ovale plus atrial septal defect, unilateral cryptorchidism and microcephaly. Three cases had microcephaly. Two girls had patent foramen ovale, and 2 girls had microcephaly. Four cases had epilepsy, and age at seizure onset ranged from 2 to 52 months. Multiple seizure types were observed, including bilateral tonic clonic seizures in 2 patients, and focal seizures in 3 patients. The seizures in 3 cases were in cluster. All patients had developmental delay, including 1 patient with mild and 4 patients with moderate to severe developmental delay. Three patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 4 patients, including focal discharges in 3 cases and generalized discharges in 1 case. Brain magnetic resonance imaging was normal in 3 patients and showed mild cortical thickening in 1 case. All cases harbored 4 SMC1A gene variants, including 2 missense variants and 2 frameshift variants (c.580_587del, c.2699delG, c.3362G>A, c.1486C>T). Three cases harbored heterozygous SMC1A variants and 2 cases carried somatic mosaic SMC1A variants with 17.5% and 88.1% mosaicism in peripheral blood. The follow-up lasted for 3 months to 4 years. The epilepsy was refractory in 2 cases. During the follow-up, all cases had very slow developmental progress or developmental retardation. All cases had different levels of growth retardation. The scores of Cornelia de Lange syndrome (CdLS) phenotypes in 5 cases were 2-6. One case had the combined phenotypes of atypical CdLS and developmental epileptic encephalopathy (DEE). The phenotype was atypical CdLS in 1 case and DEE in 1 case. The phenotypes of 2 cases with SMC1A missense variants were mild, manifesting as non-refractory epilepsy and moderate to severe developmental delay. Conclusions:All of cases with SMC1A gene variants have developmental delay. Most of the patients have clusters of seizures and some dysmorphisms. The phenotypes of SMC1A gene related disorders are diverse. Except CdLS and DEE, there are some patients with mild phenotype due to missense variants of SMC1A gene.

Executive function characteristics of preschool children with high functioning autism and children with global developmental delay / 中华行为医学与脑科学杂志

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.

Preterm General Movements in Prediction of Neurodevelopmental Disability and Cerebral Palsy at Two Years: A Prospective Cohort Study

Background: A neurological assessment before discharge from the NICU would enable early targeted intervention to mitigate the risk and severity of cerebral palsy (CP) and neurodevelopmental disability. Objective: To assess the accuracy of general movements (GM) in the preterm and fidgety movement periods in predicting neurodevelopmental disability and cerebral palsy in very preterm infants (?32 weeks gestational age) at 18-24 months corrected gestational age. Study design: Prospective cohort study Participants: One hundred and seventy very preterm infants, mean (SD) gestation 29.8 (1.32) weeks, and birthweight 1215 (226) g. Outcomes: Infants underwent GM assessments in the preterm period (31-36 weeks post-conception age) and fidgety movement period (8-18 weeks post term age). Neurodevelopmental outcomes were assessed in 127 children using the Griffiths Mental Developmental Scales-2. Results: Nine children had neurodevelopmental disability (two infants with cerebral palsy and seven with global developmental delay. The relative risk (95% CI) for neurodevelopmental disability was 1.46 (0.31-6.89) with preterm movements and 6.07 (0.97 – 38.05) with fidgety movements. Sensitivity and specificity values for the prediction of neurodevelopmental disability were 33% and 64% in the preterm period and 25% and 92% in the fidgety movement period, respectively. The sensitivity and specificity values for prediction of CP were 50% and 63% in the preterm period and 100% and 93% in the fidgety movement period, respectively. Conclusion: Preterm movements showed lower sensitivity and specificity than fidgety movements in predicting later CP and neurodevelopmental disability in preterm infants.

Genética de los trastornos del neurodesarrollo. Aspectos prácticos / Genetics of neurodevelopmental disorders. Practical aspects

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.

Validation of Hindi Translation of Survey of Well-Being of Young Children Tool in Indian Children

Objective: To validate the Hindi translation of Survey of well-being of young children (SWYC), a screening questionnaire to detect developmental delay and emotional-behavior problems by primary caregivers in Indian children. Methods: This cross-sectional observational study was done at the child development clinic of our private-sector tertiary care hospital. 180 children of either sex, 60 each in age group of 9, 18 and 24 months were enrolled in the study (30 high-risk and 30 low-risk in each group). Hindi translated version of SWYC age-specific questionnaire was administered to the parents, followed by a standardized development assessment by using the Bayley Scale of Infant and Toddler Development (BSID III). Results: SWYC Milestone score and Emotional/behavior scores showed a statistically significant correlation with BSID III (P<0.001). Milestone score’s overall sensitivity in detecting developmental delay was 94.4% and specificity was 93.4%. The sensitivity was best for the 24-month (100%) and specificity was best for 18-month questionnaire (96.7%). Behavioral score’s overall sensitivity was 68.4% and specificity 92.3%. The best sensitivity was for 18-month questionnaire (72%), and specificity for 24- month questionnaire (100%). SWYC had better sensitivity for detecting developmental delay in high-risk group (95.4%), and higher specificity in low risk group (95.5%). Conclusion: SWYC has strong test characteristics for detecting milestone delay and emotional/behavior problems in Indian children.

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear receptor subfamily 2 group F member 1 ( NR2F1 ) gene. To date, approximately 80 patients have been reported with BBSOAS. Here, we describe a 3-year-old infant with delayed development, intellectual disability, strabismus, nystagmus, and optic atrophy with well-characterized features associated with BBSOAS. Whole-exome sequencing revealed a novel heterozygous missense mutation (NM_005654.6:c.437G>A, p.Cys146Tyr) in the NR2F1 gene. This missense variant is predicted to be deleterious by the protein prediction tools (SIFT, PolyPhen-2, and MutationTaster). To the best of our knowledge, this is the first patient with BBSOAS reported from Turkey.

Prevalence and factors affecting developmental delay among 0-6-year-old children attending immunization clinic

Background: Development in early childhood is an important determinant of health status in future life and any damage to brain in that period may affect quality of life. Reliable data regarding prevalence and predictors of developmental delay among under-5 children are required for combating this problem. Aim and Objective: Our study aimed at estimating proportion and determining predictors of developmental delay among 0–6-year-old children. Materials and Methods: An observational analytic study was conducted among 173 children (<6 years) attended in immunization clinic, medical college, Kolkata. Developmental status of children was assessed by Trivandrum Development Screening Chart. Sociodemographic parameters of children and their families were studied. Maternal morbidity and care during antenatal period as well as child morbidity and care during neonatal period were also assessed. Results: Proportion developmental delay among <6-year-old children was 26%. Maternal morbidity during antenatal period was revealed as significant predictor [AOR = 9.835 with 95% CI: 3.089–31.314]. Childhood morbidity and hospitalization during neonatal period were also found to be significant determinants of developmental delay [AOR = 28.041 with 95% CI: 8.826–89.089 and AOR = 28.286 with 95% CI: 8.790–91.023, respectively]. Conclusion: Improvement of neonatal care resulted in much reduction in neonatal mortality rate at the cost of increase in prevalence of developmental delay. Hence, more emphasis is now to be given on early detection and intervention of developmental abnormalities. It is mandatory to focus not only on care during newborn period for reducing mortality but also on “care beyond survival” which is the sixth pillar of India Newborn Action Plan.

Porencefalia congénita en un lactante / Congenital porencephaly in an infant

RESUMEN La porencefalia es un trastorno extremadamente poco común del sistema nervioso central, que involucra un quiste o una cavidad en un hemisferio cerebral. Desde el punto de vista clínico, genera déficits motor y conductual, y afecta el desarrollo psicomotor normal. El objetivo de esta investigación fue referir los elementos clínicos y de diagnóstico en un lactante con porencefalia. Se presenta un lactante masculino de siete meses de edad, que fue atendido en consulta de Pediatría por presentar retardo del desarrollo psicomotor y hemiparesia derecha. Se valoró en equipo multidisciplinario con las especialidades de Neurología, Neurocirugía e Imagenología. Según los datos clínicos y los resultados de la tomografía axial computarizada de cráneo, se concluyó como porencefalia. Debido a la rareza de aparición y presentación atípica de esta afección, la porencefalia significa un desafío para los médicos pues se sabe muy poco sobre su patogénesis y tratamiento adecuado.

ABSTRACT Porencephaly is an extremely rare disorder of the central nervous system, involving a cyst or cavity in one cerebral hemisphere. Clinically, it causes motor and behavioural deficits and affects normal psychomotor development. The aim of this research was to report clinical and diagnostic features of an infant with porencephaly. We present a seven-month-old male infant who was seen in the Paediatrics consultation due to a psychomotor developmental delay and right hemiparesis. He was assessed by a multidisciplinary team with the Neurology, Neurosurgery and Imaging specialties. It was concluded to be porencephaly based on the clinical data and the results of the cranial computed axial tomography scan. Porencephaly is a challenge for physicians as little is known about its pathogenesis and appropriate treatment due to the rarity of occurrence and atypical presentation of this condition.

The characteristics of vocabulary and phrase acquisition in Mandarin-exposed children with autism spectrum disorder in Beijing / 中华实用儿科临床杂志

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.

Efficacy and safety of modified Atkins diet in children with global developmental delay: a multicenter clinical study / 中华实用儿科临床杂志

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.

Clinical observation of "regulating abdomen and dredging collaterals" rehabilitation technology in the treatment of global developmental delay / 国际生物医学工程杂志

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.

Assessment of the Reliability and Validity of the Alberta Infant Motor Scale and Peabody Development Motor Scale in Highrisk Infant

@#Introduction: The aim of this study was to investigate the correlation between Alberta Infant Motor Scale (AIMS) scores at 8 months and Peabody Developmental Motor Scale-2 (PDMS-2) and Peabody Developmental Gross Motor Scale-2 (PDMS-GM-2) scores at 18 months and 3 years in high-risk infants. Methods: This retrospective study included 105 high-risk infants at a Saudi Arabian tertiary care facility. Pearson correlation analysis was used for comparing scores. Additional subgroup analyses were performed for participants diagnosed with cerebral palsy at 18 months and for those who received physiotherapy. Result: AIMS scores at 18 months showed stronger correlations with PDMS-GM-2 scores than with PDMS-2 total scores, while these correlations decreased at 3 years. For the cerebral palsy subgroup, correlation with PDMS-2 scores at 18 months was relatively stronger than at 3 years. For the physiotherapy intervention subgroup, correlations with PDMS-GM-2 scores PDMS-2 total scores were similar at 18 months and 3 years. Conclusion: The AIMS predictive validity was lowest at 3 years in high-risk infants. A correlation was higher in participants with physiotherapy intervention and highest in participants with cerebral palsy. Outcome measures and treatment results should be cautiously reported during the first 3 years to prevent over-treating high-risk infants and decrease rehabilitation costs.