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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.
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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.
Subject(s)
Child , Humans , Intellectual Disability/diagnosis , Codon, Nonsense , Retrospective Studies , Valproic Acid , ras GTPase-Activating Proteins/genetics , Mutation , Seizures/geneticsABSTRACT
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.
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@#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.
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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.
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Child , Humans , Child Development , Psychomotor Disorders , Psychomotor Disorders/classification , Psychomotor Disorders/diagnosisABSTRACT
@#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.
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Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.
Subject(s)
Humans , Infant , Male , Arm , Chromosomes, Human, Pair 7 , Dyspnea , Ear , Growth and Development , Hypertelorism , Karyotype , Muscle Hypotonia , Neck , PediatricsABSTRACT
Trisomy 9p syndrome was first described by Rethore, et al in 1970 and about 150 cases have been reported. Trisomy 9p has been reported as either partial or complete. The term "duplication 9p syndrome" instead of "trisomy 9p syndrome" is used since most of the reported patients had only partial duplication rather than the whole arm duplication of 9p. Duplication of 9p syndrome is characterized by growth and developmental retardation, microbrachycephaly, deep and wide set eyes with down-slanting palpebral fissures, "globular" nose, down-turned corners of the mouth, prominent apparently low-set ears, and short fingers and toes with small nails. A 10- month-old male was referred to our department of pediatrics because of hypotonia and delayed development. Karyotype revealed 46, XY, dup(9)(p12p24) by GTC-Banding. We report a case of a duplication 9p syndrome diagnosed by GTC-banding.