An 11-month-old boy with tuberculous meningitis presenting as progressive limb weakness, fever, developmental retardation, and loss of consciousness: a case report.

BACKGROUND: Tuberculous meningitis (TBM) accounts for about 1% of all tuberculosis cases and about 5% of extrapulmonary tuberculosis cases. However, it poses major importance because approximately half of those affected die or become severely disabled. Herein, the successful treatment of an 11-month-old boy with progressive limb weakness, fever, developmental retardation, and loss of consciousness due to tuberculosis, was reported. CASE PRESENTATION: An 11-month-old (Iranian Turk) boy was referred to Loghman Hakim hospital for progressive limb weakness and loss of previously attained developmental milestones for the past 2 months. He also had persistent fever and loss of consciousness for about 14 to 21 days. Before being referred to our center, the patient had been diagnosed with hydrocephalus at another center due to possible acute bacterial meningitis based on a CT scan and MRI imaging. On physical examination, anterior fontanel bulging and neck stiffness were observed on the admission. His body temperature and heart rate were 38.1 C and 86 beats per minute (bpm), respectively. He had left 6 cranial nerve palsy and spastic quadriparesis with a power of grade 3/5. Other systemic examinations were normal. Endoscopic third ventriculostomy (ETV) (and leptomeningeal biopsy) revealed diffuse thickening of the floor and lateral walls of the 3rd ventricle and also a cobblestone appearance in the form of multiple white patchy lesions was detected on the floor of the 3rd ventricle. CSF analysis and polymerase chain reaction confirmed the TB meningitis. During hospitalization, a temporary EVD (external ventricular drain) was initially inserted. Eventually, defervescence was denoted 5-6 days after initiation of anti-TB medications, and a permanent ventriculoperitoneal shunt was inserted due to hydrocephalus. Gradually his truncal and limb tone and motor function improved, as did his emotional responses to his parents and ability to eat. The patient can walk without help in the 15th month following the operation and resolved hydrocephalus demonstrated on follow-up imaging. CONCLUSION: Over half of treated TB meningitis patients die or suffer severe neurological sequelae, mainly due to late diagnosis. Hence, early diagnosis and prompt initiation of TB treatment offer the best chance of a good neurological outcome.

Imidacloprid disrupts larval molting regulation and nutrient energy metabolism, causing developmental delay in honey bee Apis mellifera.

Imidacloprid is a global health threat that severely poisons the economically and ecologically important honeybee pollinator, Apis mellifera. However, its effects on developing bee larvae remain largely unexplored. Our pilot study showed that imidacloprid causes developmental delay in bee larvae, but the underlying toxicological mechanisms remain incompletely understood. In this study, we exposed bee larvae to imidacloprid at environmentally relevant concentrations of 0.7, 1.2, 3.1, and 377 ppb. There was a marked dose-dependent delay in larval development, characterized by reductions in body mass, width, and growth index. However, imidacloprid did not affect on larval survival and food consumption. The primary toxicological effects induced by elevated concentrations of imidacloprid (377 ppb) included inhibition of neural transmission gene expression, induction of oxidative stress, gut structural damage, and apoptosis, inhibition of developmental regulatory hormones and genes, suppression of gene expression levels involved in proteolysis, amino acid transport, protein synthesis, carbohydrate catabolism, oxidative phosphorylation, and glycolysis energy production. In addition, we found that the larvae may use antioxidant defenses and P450 detoxification mechanisms to mitigate the effects of imidacloprid. Ultimately, this study provides the first evidence that environmentally exposed imidacloprid can affect the growth and development of bee larvae by disrupting molting regulation and limiting the metabolism and utilization of dietary nutrients and energy. These findings have broader implications for studies assessing pesticide hazards in other juvenile animals.

Different development and fecundity between Spodoptera frugiperda USA and China populations, influenced by ecdysone-related genes.

The fall armyworm (FAW), Spodoptera frugiperda, is one of the most harmful plant pests in the world and is globally distributed from the American continent to the Asian region. The FAW USA population (Sf-USA) and China population (Sf-CHN), which belong to corn strain, showed different developmental periods and fecundity rates in lab conditions. Sf-USA had faster development and higher fecundity compared with Sf-CHN. To examine these differences, transcriptomic data from two FAW populations were analyzed and compared. Twelve gigabytes of transcripts were read from each sample and 21,258 differentially expressed genes (DEGs) were detected. DEGs with log2 fold change ≥ 2 were identified and compared in two populations. In comparison to the Sf-CHN, we discovered that 3471 and 3851 individual DEGs upregulated and downregulated, respectively. Comparing transcriptome profiles for differential gene expression revealed several DEGs, including 39 of ecdysone (E)-, 25 of juvenile hormone-, and 15 of insulin-related genes. We selected six of E-related genes, such as Neverland, Shade, Ecdysone receptor, Ecdysone-inducible protein 74 (E74), E75, and E78 from DEGs. Gene expressions were suppressed by RNA interference to confirm the physiological functions of the selected genes from Sf-USA. The Sf-USA showed developmental retardation and a decrease in fecundity rate by suppression of E-related genes. These findings show that biological characteristics between Sf-USA and Sf-CHN are influenced by E-related genes.

Corrigendum: A case of malonyl coenzyme a decarboxylase deficiency with novel mutations and literature review.

[This corrects the article DOI: 10.3389/fped.2023.1133134.].

[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review]. / SYNGAP1åŸºå› å˜å¼‚ç›¸å ³å¸¸æŸ“è‰²ä½“æ˜¾æ€§æ™ºåŠ›éšœç¢5型8ä¾‹å¹¶æ–‡çŒ®å¤ä¹ .

OBJECTIVES: To summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations. METHODS: A retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University. RESULTS: The mean age of onset was 9 months for the 8 children. All children had moderate-to-severe developmental delay (especially delayed language development), among whom 7 children also had seizures. Among these 8 children, 7 had novel heterozygous mutations (3 with frameshift mutations, 2 with nonsense mutations, and 2 with missense mutations) and 1 had 6p21.3 microdeletion. According to the literature review, there were 48 Chinese children with mental retardation caused by SYNGAP1 gene mutations (including the children in this study), among whom 40 had seizures, and the mean age of onset of seizures was 31.4 months. Frameshift mutations (15/48, 31%) and nonsense mutations (19/48, 40%) were relatively common in these children. In terms of treatment, among the 33 children with a history of epileptic medication, 28 (28/33, 85%) showed response to valproic acid antiepileptic treatment and 16 (16/33, 48%) achieved complete seizure control after valproic acid monotherapy or combined therapy. CONCLUSIONS: Children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations tend to have an early age of onset, and most of them are accompanied by seizures. These children mainly have frameshift and nonsense mutations. Valproic acid is effective for the treatment of seizures in most children.

A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.

Introduction: Malonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan. Methods: We collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use the search term "Malonyl-CoA Decarboxylase Deficiency" on Pubmed to collect cases reported. Results: We report a 3-year-old girl who is presented with developmental retardation, myocardial damage and elevated C3DC. High-throughput sequencing identified heterozygous mutation (c.798G>A, p.Q266?) in the patient inherited from her father. The other heterozygous mutation (c.641+5G>C) was found in the patient inherited from her mother. RNA-seq showed that there were 254 differential genes in this child, among which 153 genes were up-regulated and 101 genes were down-regulated. Exon jumping events occurred in exons encoding PRMT2 on the positive chain of chromosome 21, which led to abnormal splicing of PRMT2. (P<0.05, FDR<0.05). The result of SNP showed that there were multiple mutation sites on chromosome 1, which may affect the downstream gene variation at the DNA level. The literature review identified 54 cases described since 1984. Discussion: It is the first report about the locus, adding a new item to the MLYCD mutation library. Developmental retardation and cardiomyopathy are the most common clinical manifestations, with commonly elevated malonate and malonyl carnitine levels in children.

Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review.

We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai Affiliated Maternity and Children's Hospital of Guangzhou University of Chinese Medicine due to "global development delay complicated with postnatal growth retardation for more than 1 year." The infant was diagnosed with YHFS due to the onset of extremely severe mental retardation, microcephaly, abnormal hearing, severe protein-energy malnutrition, congenital cataract, cleft palate (I°), congenital atrial septal defect, brain atrophy, hydrocephalus, and brain hypoplasia. The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant, c.2245A > T (p.K749X) from her mother and an uncertain variant, c.2299C > T (p.R767C) from her father, validated by Sanger sequencing. After bilateral cataract surgery, the infant obtained better visual acuity and showed more responses and interactions with her parents. Diagnosis and treatment of this case prompt that these TELO2 variants have not been reported, deepening the understanding of the molecular and genetic mechanism of YHFS in clinical practice.

Toxic effects of 70% ethanol extract of Moringa stenopetala leaf (Baker f.) Cufod. (Moringaceae) on fetus and placenta of pregnant Wistar rats.

BACKGROUND: Moringa stenopetala leaves (Baker f.) Cufod. (Moringaceae) are used as a staple food and traditional medicine for treating various diseases like malaria, hypertension, stomach pain, diabetes, elevated cholesterol, and removing the retained placenta. Its prenatal toxicity study is minimal. Thus, this study aimed to assess the toxic effects of a 70% ethanol extract of Moringa stenopetala leaf on the fetuses and placentas of pregnant Wistar rats. METHOD: Fresh leaves of Moringa stenopetala were collected, dried at room temperature, ground to powder, and extracted using 70% ethanol. For this study, five groups of animals, each containing ten pregnant rats, were used. Groups I-III were experimental groups and treated with 250, 500, and 1000 mg/kg body weight of Moringa stenopetala leaf extract, respectively. Groups IV and V were pair-fed and ad libitum control groups. The extract was given during gestation days 6 to 12. The fetuses were recovered at day 20 of gestation and examined for the presence of developmental delays, gross external malformations, skeletal and visceral defects. Gross and histopathological changes in the placenta were also evaluated. RESULTS: Compared to the pair-fed control group, maternal daily food intake and weight gain were reduced in the 1000 mg/kg-treated group during the treatment and post-treatment periods. A significantly higher number of fetal resorptions was also seen in the 1000 mg/kg treatment group. The crown-rump length and fetal and placental weights were all significantly reduced in pregnant rats given 1000 mg/kg. However, there were no visible malformations in the visceral organs as well as external genitalia in all the treatment and control groups. About 40.7% of the fetuses in the 1000 mg/kg treated rats had no proximal hindlimb phalanges. In addition, light microscopic investigations of the placenta in the high-dose treated rats revealed structural changes in the decidual basalis, trophoblastic zone, and labyrinthine zones. CONCLUSION: In conclusion, consumption of M. stenopetala leaves at a higher dose may have toxic effects on the development of rat fetuses. At a higher dose, the plant extract increased the number of fetal resorptions, reduced the number of fetuses, decreased the fetal and placental weights, and alter the placental histopathology. Thus, it is recommended to limit the excess feeding of M. stenopetala leaves during gestation.

Characteristics of neuropsychological development in infants with different types of morphological cranial malformation / 中国康复理论与实践

ObjectiveTo compare the neuropsychological development of infants with different types of morphologic cranial deformities. MethodsA total of 954 children aged 0 to 18 months who came to Beijing Children's Hospital from January, 2020 to August, 2021 for cranial measurement and neuropsychological development measurement were selected. They were divided into brachycephaly group, plagiocephaly group, asymmetric brachycephaly group, scaphocephaly group and normal group according to the cranial measurement. The development quotient (DQ) was calculated from Children Neuropsychological Development Scale (0-6). ResultsThere were 449 cases in the normal group, 94 cases in the brachycephaly group, 201 cases in the plagiocephaly group, 82 cases in the asymmetric brachycephaly group and 128 cases in the scaphocephaly group. The detection rate of Developmental Edge and Delay (DQ < 85) for gross motor area was the most in brachycephaly group (60.6%), and it was the most for fine motor (64.6%), language (45.1%), adaption (51.2%) and social behavior areas (48.8%) in the asymmetrical brachycephaly group. The DQ was different among the five groups for all the areas except the language area (F > 14.835, P < 0.001); compared with the normal group, DQ decreased for all the four areas in all the groups except the scaphocephaly group; DQ of the areas of gross motor, fine motor and adaption was more in the plagiocephaly group than in the asymmetric brachycephaly group (P < 0.05), while DQ of the areas of gross motor and fine motor was more in the plagiocephaly group than in the brachycephaly group (P < 0.05). Linear regression analysis showed that, DQ negative linear correlated with the cephalic ratio and cranial vault asymmetry index (|B| > 0.967, P < 0.05). ConclusionAmong four kinds of cranial malformation in infants, the neuropsychological development of the scaphocephaly group is almost normal, and somehow delays for brachycephaly, plagiocephaly and asymmetric brachycephaly, especially in the aspects of gross motor, fine motor, adaption and social behavior. The more serious the cranial deformity, the greater the risk of developmental delay in each functional area.

Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review / 中国当代儿科杂志

OBJECTIVES@#To summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.@*METHODS@#A retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University.@*RESULTS@#The mean age of onset was 9 months for the 8 children. All children had moderate-to-severe developmental delay (especially delayed language development), among whom 7 children also had seizures. Among these 8 children, 7 had novel heterozygous mutations (3 with frameshift mutations, 2 with nonsense mutations, and 2 with missense mutations) and 1 had 6p21.3 microdeletion. According to the literature review, there were 48 Chinese children with mental retardation caused by SYNGAP1 gene mutations (including the children in this study), among whom 40 had seizures, and the mean age of onset of seizures was 31.4 months. Frameshift mutations (15/48, 31%) and nonsense mutations (19/48, 40%) were relatively common in these children. In terms of treatment, among the 33 children with a history of epileptic medication, 28 (28/33, 85%) showed response to valproic acid antiepileptic treatment and 16 (16/33, 48%) achieved complete seizure control after valproic acid monotherapy or combined therapy.@*CONCLUSIONS@#Children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations tend to have an early age of onset, and most of them are accompanied by seizures. These children mainly have frameshift and nonsense mutations. Valproic acid is effective for the treatment of seizures in most children.

Comparison of cardiac morphology and function in small for gestational age fetuses and fetuses with late-onset fetal growth retardation.

OBJECTIVES: To compare cardiac structural and functional findings of fetuses with fetal growth restriction (FGR) and small for gestational age (SGA). METHODS: In this prospective cohort study, patients were classified into three groups using Delphi procedure according to fetal weight, umbilical, uterine artery Doppler and cerebroplacental ratio. Fetal cardiac ultrasonographic morphology and Doppler examination was performed to all pregnant women at 36 weeks of gestation. RESULTS: Seventy three patients were included in the study. There were one (6.7%) patient in the control group, 2 (13.3%) in the SGA group and 12 (80%) in the FGR group who needed neonatal intensive care unit (NICU) and NICU requirement was significantly higher in FGR fetuses (p<0.001). Left spherical index was found to be lower only among FGR fetuses (p=0.046). Left ventricular wall thickness was decreased and the right/left ventricular wall ratio was increased in FGR fetuses (p=0.006, p<0.001). Tricuspid/mitral valve ratio and mitral annular plane systolic excursion value was lower in FGR fetuses (p=0.034, p=0.024 respectively). Also, myocardial performance index was remarkably higher in FGR group (p=0.002). CONCLUSIONS: We detected cardiac morphological changes in cases of both SGA and FGR-more pronounced in the FGR cases. Findings related to morphological changes on the left side in FGR cases were considered secondary to volume increase in FGR cases as an indicator of a brain-protective effect. In the FGR group, both systolic and diastolic dysfunctions were detected in the left heart.

Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report.

BACKGROUND: Forkhead box protein 1 (FOXP1) (OMIM: 605515) at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression. Earlier studies have suggested that FOXP1, an oncogene, is capable of initiating tumorigenicity depending on the cell type. FOXP1 also plays an important role in regulating the cell development and functions of the immune system, e.g., regulating B-cell maturation and mononuclear phagocyte differentiation, and in the occurrence and development of various immune diseases. The mRNA of this gene is widely expressed in humans, and its differential expression is related to numerous diseases. CASE SUMMARY: A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features (low-set ears). DNA samples were extracted from the child's and his parents' peripheral blood to detect whole-exome sequences and whole-genome copy number variations. Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child. Physical examination upon admission showed that the child was generally in good condition, had a moderate nutritional status, a slightly slow response to external stimuli, equally large and equally round bilateral pupils, was sensitive to light reflection, and had poor eye contact and joint attention. He had no meaningful utterance and could not pronounce words properly. He was able to use gestures to simply express his thoughts, to perform simple actions, and to listen to instructions. He had no rash, cafe-au-lait macules, or depigmentation spots. He had thick black hair and low-set ears. He had highly sensitive skin, especially on his face and palms. He had no abnormal palm fingerprint. Cardiopulmonary and abdominal examinations revealed no abnormalities. He had normal limb muscle strength and tension. He showed normal tendon reflexes of both knees. His bilateral Babinski and meningeal irritation signs were negative. He had a normal male vulva. CONCLUSION: We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion. This study provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome.

Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

Chronic toxicity of 1,3,5-triazine herbicides in the postembryonic development of the western clawed frog Silurana tropicalis.

Seven 1,3,5- triazine (s-triazine) herbicides (ametryn, prometryn, dimethametryn, simazine, atrazine, propazine, and cyanazine) were tested using an amphibian (Silurana tropicalis) metamorphosis assay focusing on morphometric, gravimetric, and thyroid-histological endpoints. Premetamorphic tadpoles were exposed to each s-triazine at 2 concentrations between 1/1000 and 1/10 of the 96-h acute toxicity values, until all tadpoles in the control group reached either the late prometamorphosic stages or the initial stage of metamorphic climax. All s-triazines tested induced significant retardation in growth and development at the higher concentrations (0.2-1.0mg/L), and some of them induced similar effects even at the lower concentrations (0.02-0.1mg/L) while each showing a linear dose-response. Total size of the thyroid glands tended to be reduced corresponding to the delayed development, but without showing histomorphological lesions typical of anti-thyroid chemicals. These consistent results suggest that the s-triazines can act as a chemical stressor inhibiting tadpole growth and development, possibly without disrupting the thyroid axis. In addition, tadpoles exhibiting spinal curvatures appeared in either one or both of the lower and higher concentration groups for each s-triazine tested. The incidence rate in the s-triazine exposure groups where tadpoles with scoliosis were observed ranged from 3.3% to 63.3%, some of which were significantly higher than that in the respective control groups (0-6.7%). It is speculated that the s-triazines may promote to occur axial malformations in developing tadpoles.

Developmental retardation, reduced fecundity, and modulated expression of the defensome in the intertidal copepod Tigriopus japonicus exposed to BDE-47 and PFOS.

2,2',4,4'-tetrabromodiphenyl ether (BDE-47) and perfluorooctane sulfonate (PFOS) are widely dispersed persistent organic pollutants (POPs) in the marine ecosystem. However, their toxic effects on marine organisms are still poorly understood. In this study, we investigated the effects of BDE-47 and PFOS on development and reproduction at the organismal level and reactive oxygen species (ROS) production and gene expression patterns of the defensome at the cellular level in the intertidal copepod Tigriopus japonicus. In copepods exposed to BDE-47 and PFOS, we observed developmental retardation and reduced fecundity, suggesting repercussions on in vivo endpoints through alterations to the normal molting and reproduction system of T. japonicus. BDE-47 and PFOS increased levels of ROS in T. japonicus in a concentration-dependent manner, indicating that POPs can induce oxidative stress through the generation of ROS. Additionally, transcript profiles of genes related to detoxification (e.g., CYPs), antioxidant functions (e.g., GST- sigma, catalase, MnSOD), apoptosis (e.g., p53, Rb), and cellular proliferation (e.g., PCNA) were modulated over 72h in response to BDE-47 (120µg/L) and PFOS (1000µg/L). These findings indicate that BDE-47 and PFOS can induce oxidative stress-mediated DNA damage repair systems with transcriptional regulation of detoxification, antioxidant, and apoptosis-related genes, resulting in developmental retardation and reduced fecundity in the copepod T. japonicus.

Lactate retards the development of erythrocytic stages of the human malaria parasite Plasmodium falciparum.

The intraerythrocytic form of the human malaria parasite Plasmodium falciparum relies on glycolysis for its energy requirements. In glycolysis, lactate is an end product. It is therefore known that lactate accumulates in in vitro culture; however, its influence on parasite growth remains unknown. Here we investigated the effect of lactate on the development of P. falciparum during in vitro culture under lactate supplementation in detail. Results revealed that lactate retarded parasite development and reduced the number of merozoites in the schizont stage. These findings suggest that lactate has the potential to affect parasite development.

Inherited Metabolic Diseases Screening in Children with Developmental Retardation：97 Cases Report / 中国康复理论与实践

Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarni-tine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.

Inherited Metabolic Diseases Screening in Children with Developmental Retardation: 97 Cases Report / 中国康复理论与实践

@#Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarnitine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.

El desarrollo psicomotor y sus alteraciones: entre lo normal y lo patológico / Psychomotor development and its disorders: between normal and pathological development

El siguiente artículo discute aspectos propios del desarrollo psicomotor (DPM) y sus alteraciones, con especial énfasis en el retraso psicomotor. Se hace referencia a las clasificaciones diagnósticas para los problemas del desarrollo como el DSMIV y el CIE 10, y se analizan sus ventajas y desventajas. También se problematiza el concepto de normalidad en tanto sinónimo de promedio estadístico en el contexto de los problemas del DPM, para considerar su dinámica y variabilidad, evitando la oposición normalidad/patología, y valorando aspectos como el sociocultural que permiten repensar la universalidad y la relatividad del DPM.

This article discusses some aspects of psychomotor development and its disorders, with special emphasis on psychomotor retardation. Diagnostic classifications of psychomotor problems, such as DSM-IV and CIE-10, are referred to and their advantages and disadvantages are analyzed. The concept of normality as a synonym for the statistical mean in the context of psychomotor disorders is also analyzed in order to consider its dynamic and variability, thereby avoiding the normality/pathology opposition, while some issues, such as the social and cultural aspects, are highlighted, making it possible to rethink the universality and relativity of psychomotor development.

Effect of Speech Therapy on the Intelligence of Children with Developmental Retardation of Speech / 中国康复理论与实践

@#Objective To observe the effect of speech therapy on the intelligence of children with developmental retardation of speech.Methods 20 cases of children with developmental retardation of speech were evaluated and individual language training program was made,especially trainings of abstract thought,logical thought and development of cognition ability of attention.All of the training contents were combined and make into play form.The training prolonged for 1～3 courses.Intelligence test and test of the level of language development were performed before and after the training.Results After training,10 children(50%) reached the general level,the total efficiency was 100%.Conclusion The multidisciplinary language training can improve intelligence,level of language development of children with developmental retardation of speech.