• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제28권4호
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• pp.192-196
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• 2017

Social (pragmatic) communication disorder (SCD) is a new diagnosis included under communication disorders in the neurodevelopmental disorders section of Diagnostic and Statistical Manual of Mental Disorders-5. SCD is defined as a primary deficit in the social use of nonverbal and verbal communication. SCD has very much in common with pragmatic language impairment, which is characterized by difficulties in understanding and using language in context and following the social rules of language, despite relative strengths in word knowledge and grammar. SCD and Autism Spectrum Disorder (ASD) are similar in that they both involve deficits in social communication skills, however individuals with SCD do not demonstrate restricted interests, repetitive behaviors, insistence on sameness, or sensory abnormalities. It is essential to rule out a diagnosis of ASD by verifying the lack of these additional symptoms, current or past. The criteria for SCD are qualitatively different from those of ASD and are not equivalent to those of mild ASD. It is clinically important that SCD should be differentiated from high-functioning ASD (such as Asperger syndrome) and nonverbal learning disabilities. The ultimate goals are the refinement of the conceptualization, development and validation of assessment tools and interventions, and obtaining a comprehensive understanding of the shared and unique etiologic factors for SCD in relation to those of other neurodevelopmental disorders.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제16권2호
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• pp.160-172
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• 2005

ADHD는 소아정신질환 가운데 가장 흔한 신경발달학적 질환으로 간주되고 있다. ADHD의 원인은 아직 명확하게 밝혀지지는 않았지만 다양한 유전적 및 신경학적 요인들이 관여하는 것은 틀림없고, 이들이 신경계의 특정 부위와 경로에 이상을 초래하는 것으로 알려져 있다. 이 논문에서는 최근의 연구들을 중심으로 ADHD의 원인과 관련한 신경발달학적 측면을 고찰하고자 한다. 방법은 Medline검색을 통해 최근 발표된 논문들, ADHD관련 단행본, ADHD를 특집으로 한 몇 개의 잡지에 실린 종설 논문들 및 연관 참고문헌 등을 토대로 조사하였다. 결과는 ADHD의 신경발달학적 측면에서 일부 유전적인 요인과 임신 및 출생전후의 환경적 요인 등이 복합적으로 작용하여 발달하는 뇌를 변형시킴으로서 주로 대뇌의 prefrontal cortex-striatal network를 구조적으로 혹은 기능적으로 저하되어 발생하는 것으로 생각할 수 있다. 임신 2기에 ADHD의 발생과 관련한 대뇌 및 소뇌 이상을 초래한다는 주장을 하기도 하였으며, 이들 이상은 더 이상 진행하지 않고 고정된 것이라는 주장도 있지만, ADHD의 원인과 관련하여 신경발달학적으로 어떤 시기에, 어떤 손상이나 영향에 의해, 어떤 이상이 초래하여 발생하는지에 대해서는 아직 연구가 매우 부족하다. 결론적으로 주의력 체계와 관련한 신경전달회로의 차이, 도파민계와 노에피네프린계의 기능이나 증상과 관련한 차이 등 을 포함하여 신경발달학적인 면에 대한 보다 심도 있는 연구들이 시행되어야 할 것이다.

• The Korean Journal of Physiology and Pharmacology
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• 제23권6호
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• pp.467-474
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• 2019

Exposure to lead during pregnancy is a risk factor for the development of psychiatric disorders in the offspring. In this study, we investigated whether exposure to low levels of lead acetate (0.2%) in drinking water during pregnancy and lactation causes behavioral impairment and affects the expression of proteins associated with neurodevelopment. Lead exposure altered several parameters in rat offspring compared with those unexposed in open-field, social interaction, and pre-pulse inhibition tests. These parameters were restored to normal levels after clozapine treatment. Western blot and immunohistochemical analyses of the hippocampus revealed that several neurodevelopmental proteins were downregulated in lead-exposed rats. The expression was normalized after clozapine treatment (5 mg/kg/day, postnatal day 35-56). These findings demonstrate that downregulation of several proteins in lead-exposed rats affected subsequent behavioral changes. Our results suggest that lead exposure in early life may induce psychiatric disorders and treatment with antipsychotics such as clozapine may reduce their incidence.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.29-33
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• 2021

Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder involving a lack of gene expression from the paternal chromosome 15q11-q13 region. This is typically due to paternal 15q11-q13 deletions (in approximately 60% of cases), maternal uniparental disomy 15, or when both 15s are from the mother (about 35% of cases). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. PWS is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall level of behavior disturbances compared to individuals with similar intellectual disabilities. This condition severely limits social adaptations and quality of life. Different factors have been linked to the intensity and form of these behavioral disturbances, but there is no consensus regarding the cause. Consequently, there is still controversy surrounding management strategies and there is a need for new data. PWS is a multisystem disorder. Family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. Here we analyze behavioral problems in children and adults with PWS by age and review appropriate management and treatment strategies for these symptoms.

• Clinical and Experimental Pediatrics
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• 제52권1호
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• pp.14-21
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• 2009

Neurodevelopmental outcomes of very low birth weight infants (VLBWI) and extremely low birth weight infants (ELBWI) in Korea on 14 reports from 1984 to 2008 were analyzed. Follow-up rates were varied from 42.9% to 90.2%. Duration of follow-up ranged from 4 months to 5 years. The prevalence of cerebral palsy (CP) of VLBWI was as follows: 4.3-5.3% in 1980s, 7.1-9.1 % in 1990s and 3.6-15.6% in 2000s. CP was noted in 8.2-30.8% of ELBWI on studies reported in 2000s. Delayed Mental development was diagnosed in 2.0-17.9% of VLBWI and in 20.4-30.8% of ELBWI. Sensory impairments such as hearing loss or visual deficit were reported in 3.1-3.6% of VLBWI and 0.0-10.0% of ELBWI. Seizure disorder was reported in 5.3% of VLBWI by one report. No reports for minor neurodevelopmental dysfunctions in VLBWI and ELBWI were found from 1984 to 2008. It is necessary to establish basic protocols and nationwide systems for long-term follow-up study to obtain valuable data.

• 생물정신의학
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• 제10권2호
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• pp.121-125
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• 2003

Objective:Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. Method:For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. Result:There was a statistical significant difference in genotypic distribution(${\chi}^2$=16.656, df=2, p=0.0002) and allelic frequencies(${\chi}^2$=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. Conclusion:Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제31권1호
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• pp.41-45
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• 2020

Objective: The objective of this study was to assess serum, hair, and urinary magnesium (Mg) levels in children with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and both ASD and ADHD to reveal potential interactive effects. Methods: A total of 148 boys aged 4-9 years old were enrolled in this study, including 44 children with ADHD, 40 pediatric patients with ASD, 32 patients with both ADHD and ASD, as well as 32 healthy neurotypical children. Hair, serum, and urinary Mg levels were assessed using inductively-coupled plasma mass spectrometry (ICP-MS). Laboratory quality control was performed using certified reference materials of human hair, plasma, and urine. Results: No significant group difference in serum Mg levels was observed. Mg content in hair was found to be reduced in children with ADHD and ADHD+ASD compared to that in healthy controls by 11% and 15%, respectively. Urinary Mg levels in children with ADHD+ASD exceeded the control, ADHD, and ASD values by 51, 76, and 65%, respectively. Factorial analysis revealed significant contribution of ADHD to hair and urinary Mg levels. Multiple regression analysis demonstrated that hair and urinary Mg levels were considered as significant predictors of neurodevelopmental disorder complexity. Conclusion: We propose that impaired Mg status may provide a link between ADHD and ASD.

• 한국발생생물학회지:발생과생식
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• 제16권3호
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• pp.169-175
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• 2012

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability and autism. The genetic cause is the absence of UBE3A, an E3 ubiquitin ligase, from the maternal chromosome which can arise from multiple origins. Recently discovered targets of Ube3a are important for activity dependent changes in synaptic transmission and spine morphology. Plasticity studies in an AS mouse model is important for basic plasticity research with regard to understanding protein homeostasis as well as the search for therapeutic targets for the patients. The progress on synaptic plasticity from this unique disorder is reviewed.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.35-40
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic disorder which lead to severe neurodevelopmental, endocrine, and metabolic impairment. PWS is genetic disorder related to genomic errors which lead to inactivation of paternally-inherited genes on chromosome 15q11-q13. Epigenetic mechanisms are also involved in PWS, and epigenetic therapies are under investigation. Here we provide review about genetics of PWS, focused on genes involved in pathophysiology of PWS. We will also summarize epigenetics and genetic counseling of PWS.