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Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in childhood, which seriously affects physical and mental health in children.Its etiology and pathogenesis are complex and have not been fully elucidated.Currently, the theory of Dopamine (DA) deficits has been widely recognized and studied in the international academic community.The DA system is considered as the key to the pathogenesis of ADHD.The causes of DA deficits are complex.In addition to the well-established reuptake disorder caused by abnormal DA transporter function, DA deficits are also associated with the activation of DA vesicle cycle enzymatic inactivation, vesicle transport dysfunction, and receptor dysfunction, which are of great significance in analyzing disease pathogenesis and drug development.This article reviews the research on the causes of DA deficits proposed in recent years based on the theory of DA deficits, aiming to provide ideas and references for the research on the pathogenesis of ADHD in China.
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Objective:To explore the correlation between imaging features of children with tic disorders and their features assessed by the Yale Global Tic Severity Scale (YGTSS).Methods:A retrospective study.A total of 33 children with tic disorders treated in the Department of Child Rehabilitation, the First Affiliated Hospital of Xinxiang Medical University from January 2022 to March 2023 were included in the tic disorder group, and 10 healthy age-matched children received physical examination during the same period were included in the healthy control group.Under the functional positioning of functional magnetic resonance imaging (fMRI), the active area of children with tic disorders at varying degrees was found.In the region of interest (ROI), localization monitoring and diffusion tensor imaging (DTI) were performed, and the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) were recorded.In the same ROI (bilateral thalamus, genu of internal capsule, splenium of corpus callosum, globus pallidus, caudate nucleus) of children in healthy control group, ADC and FA were recorded.Imaging data were compared between groups using the independent sample t test, and their correlation with YGTSS scores was identified by the Pearson correlation analysis. Results:There were significant differences in ADC of the left thalamus (0.869±0.077 vs.0.794±0.083, P=0.022), the right thalamus (0.853±0.055 vs.0.798±0.054, P=0.014), the left caudate nucleus (0.871±0.121 vs.0.787±0.052, P=0.003) and the right caudate nucleus (0.856±0.075 vs.0.788±0.063, P=0.010) between tic disorder group and healthy control group.No significant differences were detected in ADC of the remaining ROI between groups (all P>0.05). There were significant differences in FA of the left thalamus (0.259±0.050 vs.0.344±0.077, P=0.007), the right thalamus (0.265±0.057 vs.0.347±0.095, P=0.026) and the right caudate nucleus (0.168±0.118 vs.0.309±0.181, P=0.041) between tic disorder group and healthy control group.No significant differences were detected in ADC and FA between children with mild and moderate tic disorders (all P>0.05). ADC of the left thalamus and the right caudate nucleus were significantly correlated with YGTSS scores in children with tic disorders ( r=0.407 and 0.372, respectively; all P<0.05). FA of the right thalamus was negatively correlated with YGTSS scores in children with tic disorders ( r=-0.439, P<0.05). Conclusions:ADC of the thalamus and caudate nucleus, and FA of the right thalamus are significantly correlated with YGTSS scores of children with tic disorders.High ADC of the left thalamus and the right caudate nucleus are correlated with high YGTSS scores, indicating a severe symptom of tic disorder in children.A high FA of the right thalamus is correlated with low YGTSS scores, indicating a mild symptom of tic disorder in children.
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A case of limb girdle muscular dystrophy type 2S (LGMD2S) caused by maternal uniparental disomy on chromosome 4 at the First Affiliated Hospital of Henan University of Chinese Medicine in March 2020 was reported.The female child, aged 9 months and 4 days, presented with developmental delay after bacterial meningitis in early infancy, decreased muscle strength in infancy and increased muscle and liver enzymes.Family genetic analysis showed that the child′s monodiploid in chromosome 4 was maternal origin, and the homozygous c. 1066T > G (p.Y356D) of TRAPPC11 gene may had pathogenic variation, which came from the child′s mother.The final diagnosis of LGMD2S was made according to the clinical manifestations and gene test results.LGMD2S is a rare autosomal recessive disease caused by the pathogenic variation of TRAPPC11 gene.Its clinical characteristics include proximal limb weakness, motor and intellectual retardation, seizures, motor disorders, elevated serum creatine kinase and muscular dystrophy like pathological changes in children.
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Chinese rehabilitation guidelines for cerebral palsy (2022) mainly refers to the international evidence-based medicine and relevant guidelines for rehabilitation of cerebral palsy in recent five years.On the basis of the Chinese rehabilitation guidelines for cerebral palsy (2015), combined with the medical literature and research achievements published at home and abroad before June 2022, the evidence-based practice guidelines are revised by combining the common opinions of pediatric rehabilitation experts in China.The content includes introduction, overview, the assessment and intervention guideline for infants at high risk of cerebral palsy, evaluation of children with cerebral palsy under ICF-CY framework, rehabilitation treatment, Traditional Chinese Medicine rehabilitation therapy, rehabilitation nursing, rehabilitation approaches and management.This article interprets the guide in combination with the hot spots of cerebral palsy prevention and treatment at home and abroad, in order to help pediatric rehabilitation workers deepen their understanding of the guidelines and better guide the clinical rehabilitation practice.
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Intellectual disability is a common disease in children′s nervous system, which seriously endangers children′s physical and mental health.The etiology of the intellectual disability is complex, and many genetic and environmental factors are involved in the process of it.Inherited metabolic disorders are an important cause of the disease.With the improvement of diagnosis and treatment level, the clinical outcome of children with inherited metabolic disorders can be greatly improved after early diagnosis and treatment.Therefore, it is of great significance for guiding the treatment, prognosis and reproduction of patients to identify the inherited metabolic disorders that lead to intellectual disability in time and as early as possible.Now, the known inherited metabolic disorders that lead to intellectual disability, such as phenylketonuria, mitochondrial disease, urea circulatory disorder, creatine deficiency syndrome, and lysosomal storage syndrome, etc, are summarized, which are helpful to understand its clinical characteristics and improve the clinical recognition.
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Objective:To analyze the neurodevelopmental characteristics of the children with methylmalonic acidemia and investigate its possible influencing factors.Methods:The clinical questionnaire was used to collect clinical data of children with methylmalonic acidemia at the First Affiliated Hospital of Henan University of Chinese Medicine from February 2016 to February 2018, and Gesell development scal was used to evaluate the neurodevelopment.Results:Among the 86 patients, 45 cases were boys and 41 cases were girls.They were 2.4 to 62.5 months, and the minimum age was 8.3 months.Thirty-three cases were detected by neonatal screening, 53 cases were diagnosed after onset.The energy zone in this children were mild to severe developmental defects.Twenty-eight cases were 0 to 6 months old, and fine exercise, the large exercise and adaptability developmental defects were significant of them; 24 cases were >6 to 12 months old, and the language, adaptability and personal-social developmental defects were significant of them; 23 cases were >12 to 36 months old, and the language, adaptability and large movements developmental defects were significant of them; 11 cases aged >36 to 72 months had significant developmental defects in language, personal-social contact and adaptability.The developmental quotients of fine movements, big movements, adaptability, personal-social and language of the children diagnosed by newborn screening were much better than those diagnosed after onset in each energy zone(all P<0.05). Conclusions:Although the treatment is actively regulated, most children with methylmalonic acidemia still have neurodevelopmental abnormalities with varying degrees of severity.The children before the age of 6 months have significant defects in motor movement and adaptability development.The patients after the age of 6 months usually have language, adaptability and social contact defects.Newborn screening is important and nervous system damage is milder in the children diagnosed by newborn screening.
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Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with holocarboxylase synthetase deficiency (HCSD). Methods The clinical and genetic data of a rare case of HCSD were retrospectively analyzed. Results After birth, the boy showed development delay. At 3 months old, the boy was started with rehabilitation. Tandem mass spectrum and gas chromatography analysis was carried in the 5th month after birth because of the recurrent upper respiratory tract infection and elevated level of C5-OH in the blood and decreased level of C0,and elevated level of 3-OH-propionic, pyruvic acid, methylcrotonylglycine in the urine were in accordance with the HCSD. Genetic analysis found compound heterozygous mutations of c.1648G>A and c.1544G>A in gene, of which the latter one is novel. After the treatment of biotin (20 mg/d) and L-Carnitine, the condition of this boy was gradually improved. Conclutions HCSD is characterized with slow onset and inconspicuous manifestations. The confirmed diagnosis can be built with MS/MS, GC/MS analysis and gene mutation analysis. The effect of early biotin treatment is satisfactory. In this study,we carried out clinical and genetic diagnosis,which lays a solid foundation for prenatal diagnosis and early treatment.
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Objective Mitochondrial DNA depletion syndrome is a rare autosomal recessive disorder characterized by complex genetic and clinical manifestations.This study aimed to investigate the clinical and laboratory features of a boy with mitochondrial encephalomyopathy caused by SUCLG1 mutation.Methods The clinical data and genetic test of a patient with mitochondrial DNA depletion syndrome were retrospectively analyzed.Result The proband presented with limb weakness at the 4th month after birth,and presented dystrophic appearance,muscular hypotonia,psychomotor retardation,failure to thrive,hearing impairment,scoliosis,thoracocyllosis and facial features at 9 months old.Laboratory tests showed blood lactic acid and pymvate increased,liver damage and abnormal myocardial enzymes.Plasma camitine ester profiling showed that amino acids decreased and C4-dicarboxylic-carnitine increased.Urinary organic acid analysis showed increased concentration of methylmalonic acid and its metabolites indicating methyl malonic aciduria.MRI showed bilateral T2 hyperintensities in bilateral caudate nuelei and lenticular and brain atrophy-like changes.Brainstem auditory evoked potential showed severe hearing loss.His development quotient was 35.Genetic sequencing of MUT,,MMAA,MMAB and other classic mitochondrial disease related genes of the proband revealed no mutation.Two heterozygous mutations,c.961C＞G and c.713T＞C,inherited from the phenotype of normal parents were detected in his SUCLG1 gene.The copy number of mitochondrial DNA was 244/cell in peripheral blood leukocytes,equivalent to 68.4％ of that in normal control.Conclusion In this study,an infant with muscular hypotonia,psychomotor retardation,deafness and slightly increased urine methyl malonic acid was diagnosed by genetic test.For patients with unexplained hypotonia,mental retardation,abnormal movements,hearing disorder together with increased blood pyruvic acid and lactic acid,mild methylmalonic acidemia and abnormal acylcarnitine,mitochondrial DNA depletion syndrome should be considered.Gene analysis is important for diagnosis and prenatal diagnosis of the next pregnancy.
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Objective To observe the effects of Salvia injection on the brain pathology,expression of synaptophysin and the synaptic ultrastructure at different time points in neonatal rats after hypoxic-ischemic brain damage (HIBD).Methods One hundred and fifteen healthy newborn SD rats of 7-day-old were randomly divided into normal group,sham group,Salvia high dose group,Salvia low dose group,and the HIBD model group.The HIBD model was prepared by ligation of the left carotid artery combined with hypoxic environment.The rats(in normal group,sham and HIBD model groups) were injected with sterile saline[9.0 mL/(kg · d)],while the rats in high and low dose groups were injected with Salvia injection [9.0 mL/(kg · d) and 4.5 mL/(kg · d) respectively].The intraperitoneal injec tion lasted for 7 and 14 days.The rats' brains were collected at one day,7 days and 14 days after the modeling respec tively.The specimens of brain tissue were observed through hematoxylin-eosin (HE),the expression of synaptophysin (SYP) was determined by using immunohistochemistry method,and the synaptic ultrastructure in the frontal cortex was observed through transmission electron microscope.Results Finally,106 newborn rats were included in statistics analysial.(1)General observation:after HIBD modeling,the neonatal rats were mostly in the left-lateral position,with difficulties in turning over,balance abnormalities,limb shaking and other abnormal behaviors,and the delay of eyes open with the left upper eyelid ptosis.(2) Pathology:the disordered and deep stained nerve cells,the degenerated and necrotic neurons were observed in the brain tissues of the HIBD model group.(3) Expression of synaptophysin:mean density of SYP in the HIBD model group was significantly lower than the normal group on day 1,day 7,and day 14 (P ＜0.05);the SYP expression in the Salvia intervention groups increased compared with the HIBD model group(P ＜ 0.05).(4) Synaptic ultrastructure:the incomplete structure of the frontal cortex neurons,the swelling organelle and the synaptic structure damage were observed in the HIBD rats.Compared with the HIBD model group,the neuronic and synaptic ultrastructure were improved by the intervention treatment of high and low dose Salvia injection.Conclusions The mechanism of Salvia injection in treatment of neonatal rats with HIBD may be associated with the improvement in neuronal ultrastructure and synaptic reorganization.
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Objective To explore the effect of repetitive transcranial magnetic stimulation (rTMS) on intelligence development in chil-dren with cerebral palsy with epilepsy. Methods 156 children with cerebral palsy with epilepsy were randomly divided into control group (n=70) and treatment group (n=86). The control group received comprehensive rehabilitation combined with traditional Chinese and western medicine. The treatment group received rTMS in addition. Both groups were evaluated with the development quotient (DQ) of Gesell Devel-opment Schedules and Mental Developmental Index (MDI) of Children's Development Center of China (CDCC) intelligence test before, and 2 and 4 months after treatment. Results The DQ and MDI improved more in the treatment group than in the control group (P<0.001). Con-clusion rTMS can improve the intelligent development in children with cerebral palsy with epilepsy.
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Base on the definition,classification and diagnostic condition of cerebral palsy published by Pediatrics Neurology Group of Chinese Medical Association in 2005 and Child Rehabilitation Committee of Chinese Rehabilitation Medical Association in 2007.Referencing foreign diagnosis and treatment guidelines for child with cerebral palsy and the current paper report,going through more than once discussion,compiled by Chinese Compiling Committee of Rehabilitation and Treatment Guidelines for Cerebral Palsy so as to guide comprehension of the definition of cerebral palsy,enhance the level of diagnosis and classification of cerebral palsy for clinic doctor and all so acting on international convention.
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@#Objective To observe the clinical effect of manipulation to Du channel and Jiaji acupoints on dyskinetic cerabral palsy.Methods 76 children with dyskinetic cerebral palsy were divided into control group (n=31) and treatment group (n=34). The control group received conventional therapy and the treatment group received the manipulation to Du channel and Jiaji acupoints in addition. Gross Motor Function Measure (GMFM), and the changes of reflection in lateral bending and muscle tension fluctuation were evaluated. Results There was no significant difference in the percentages of total GMFM, lateral bending reflex, and muscle tension fluctuation between 2 groups before treatment (P>0.05). After treatment, all these indexes were better in the treatment group than in the control group (P<0.05). Conclusion manipulation to Du Channel and Jiaji acupoints can promote the the lateral bending reflex disppear, reduce the fluctuation of musle tone, and improve the gross motor function.
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@#Spasticity can influence the outcome of the patients with cerebral injury. Most traditional physical therapies often focused on the spastic muscle. The recent development has showed that stimulating the antagonistic muscle can relieve the spasticity, which based on the reciprocal inhibition theory. This paper reviewed these approaches on its theory and application.