ABSTRACT
Resumen El uso de psicofármacos es frecuente en adultos con discapacidad intelectual, a menudo por conductas desafiantes en ausencia de diagnóstico de trastorno mental. Investigaciones previas cuestionan la eficacia de estos tratamientos a falta de una enfermedad psiquiátrica, y destacan sus efectos secundarios. El objetivo de esta investigación es analizar el uso de psicofármacos en función del diagnóstico de enfermedad mental y conducta desafiante, así como la distribución de la población según el uso de psicofármacos en 569 adultos con discapacidad intelectual que presentan enfermedad mental o conductas desafiantes. Los datos acerca de la elevada prescripción de psicofármacos y, especialmente, de antipsicóticos alertan sobre la necesidad de una profunda revisión de la práctica clínica que permita reducir el uso de esta medicación en el tratamiento de la conducta y los trastornos mentales en esta población, para garantizar una atención de calidad y el respeto de los derechos de estas personas.
Abstract The use of psychotropic drugs in adults with an intellectual disability is frequent, often for defiant conduct due to the lack of a diagnosis of a mental disorder. Previous research has questioned the efficacy of such treatments in the absence of a psychiatric illness, and the stress has been on the side effects. The objective of this research is to analyze the use of psychotropic drugs based on the diagnosis of mental illness and behavioral disorders, as well as the distribution of the sample according to the use of psychotropic drugs in 569 adults with an intellectual disability who also suffer a mental illness and/or defiant conduct. Our data about the high prescription of psychotropic drugs and especially antipsychotics, warns of the need for a profound review of the clinical practice that would allow a reduction in the use of psychotropic drugs in the treatment of mental disorders and behaviour in the said collective, so as to guarantee quality mental health care for these persons and respect for their rights.
ABSTRACT
A retrospective analysis was performed on the clinical data of a case of intellectual developmental disorders with dysmorphic facies and behavioral abnormalities admitted in the Department of Neurology and Endocrinology, Children′s Hospital Affiliated to Shandong University in February 2020.The proband was a 3 years and 6 months old boy, who was hospitalized because of " convulsions for more than 1 year" . Physical examination revealed facial deformities.Gesell developmental schedule showed that adaptive and gross motor behavior development was severely retarded, and fine motor, language and personal-social behavior development was moderately retarded.Brain magnetic resonance imaging suggested schizencephaly.Electroencephalogram results indicated extensive discharges mainly in bilateral anterior head areas, and one myoclonic seizure was detected.Gene detection results disclosed the pathogenic variation of the proband, which was a heterozygote mutation (c.2480_2484del) in FBXO11 gene.High-throughput sequencing technology increases the possibility of identifying potential genetic mutations as the cause of disease.Patients with recurrent seizures, multi-malformation and general developmental delays should undergo gene detection in time to clarify the etiology.This technique can guide prenatal diagnosis and genetic counseling.
ABSTRACT
A retrospective analysis was performed on the clinical data of a case of intellectual developmental disorders with dysmorphic facies and behavioral abnormalities admitted in the Department of Neurology and Endocrinology, Children′s Hospital Affiliated to Shandong University in February 2020.The proband was a 3 years and 6 months old boy, who was hospitalized because of " convulsions for more than 1 year" . Physical examination revealed facial deformities.Gesell developmental schedule showed that adaptive and gross motor behavior development was severely retarded, and fine motor, language and personal-social behavior development was moderately retarded.Brain magnetic resonance imaging suggested schizencephaly.Electroencephalogram results indicated extensive discharges mainly in bilateral anterior head areas, and one myoclonic seizure was detected.Gene detection results disclosed the pathogenic variation of the proband, which was a heterozygote mutation (c.2480_2484del) in FBXO11 gene.High-throughput sequencing technology increases the possibility of identifying potential genetic mutations as the cause of disease.Patients with recurrent seizures, multi-malformation and general developmental delays should undergo gene detection in time to clarify the etiology.This technique can guide prenatal diagnosis and genetic counseling.
ABSTRACT
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.
ABSTRACT
Interpretation of The International Statistical Classification of Diseases and Related Health Problems-11 published by World Health Organization(WHO) and The Diagnostic and Statistical Manual of Mental Disorders of Fifth published by American Psychological Association(APA), and reference of literature in recent 10 years.In order to be in agreement with international standards which used to classify the diagnosis of neurodevelopmental disorders in children and to provide a reference for clinical diagnosis.