• Journal of Yeungnam Medical Science
• /
• v.38 no.4
• /
• pp.275-281
• /
• 2021

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by abnormalities in social communication/interaction and restrictive, repetitive patterns of behavior. ASD is a relatively common psychiatric disorder, with a prevalence of approximately 1.7% in children. Although many children and adolescents with ASD visit the hospital for medical help for emotional and behavioral problems such as mood instability and self-harming behavior, there are also many visits for sleep disturbances such as insomnia and sleep resistance. Sleep disturbances are likely to increase fatigue and daytime sleepiness, impaired concentration, negatively impact on daytime functioning, and pose challenges in controlling anger and aggressive behavior. Sleep disturbance in children and adolescents with ASD negatively affects the quality of life, nothing to say the quality of life of their families and school members. In this review, sleep disturbances that are common in children and adolescents with ASD and adolescents are presented. The developmental and behavioral impacts of sleep disturbances in ASD were also considered. Finally, non-pharmacological and pharmacological treatments for sleep disturbances in children and adolescents with ASD and adolescents are reviewed.

• Biomolecules & Therapeutics
• /
• v.16 no.4
• /
• pp.312-319
• /
• 2008

Attention deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by hyperactivity, inattention, and impulsiveness. Current estimates suggest that 4-12% of school age children are affected by ADHD, which hampers proper social relationship and achievements in school. Even though the exact etiology of the disorder is still in the middle of active investigation, the availability of pharmacological treatments for the disorder suggest that at least the symptoms of ADHD are manageable. To develop drugs with higher efficacy and fewer side effects, it is essential to have appropriate animal models for in vivo drug screening processes. Good animal models can also provide the chances to improve our understanding of the disease processes as well as the underlying etiology of the disorder. In this review, we summarized current animal models used for ADHD research and discussed the point of concerns about using specific animal models.

• Clinical and Experimental Pediatrics
• /
• v.58 no.1
• /
• pp.8-14
• /
• 2015

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.

• Clinical and Experimental Pediatrics
• /
• v.63 no.1
• /
• pp.8-13
• /
• 2020

Autism spectrum disorder is a common neurodevelopmental disorder with an unknown etiology. The correlation between neonatal jaundice and the risk of developing autism spectrum disorder was investigated previously. Some studies showed significant associations, whereas others demonstrated no association. In this meta-analysis, we pooled the results of observational studies to examine the association between neonatal jaundice and the risk of autism spectrum disorder among children. We identified all studies published through April 2018 by conducting a literature search using Web of Science, PubMed, and Scopus databases as well as the reference lists of the retrieved studies. The pooled odds ratios (ORs), rate ratio (RR), and their 95% confidence intervals (CIs) were calculated as random effect estimates of association among studies. We conducted a subgroup analysis to explore any potential sources of intergroup heterogeneity. The pooled estimates of OR and RR showed a considerable correlation between neonatal jaundice and ASD among children (OR, 1.35; 95% CI, 1.02-1.68) and (RR, 1.39; 95% CI, 1.05-1.74). A larger effect size was shown in the pooled estimated crude OR than in the adjusted OR (1.75 [0.96-2.54] vs. 1.19 [1.07-1.30]). This study showed that neonatal jaundice may be associated with ASD and may increase the risk of ASD among children.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.32 no.2
• /
• pp.51-62
• /
• 2021

Objectives: Tic disorder is a neurodevelopmental disorder characterized by multiple involuntary movements of muscles or vocalization. Although tic symptoms subside as the patient ages, some patients suffer from significant functional impairments related to severe tic symptoms. This manuscript aimed to review the latest scientific evidences for the effect of cognitive-behavioral interventions on tic disorder. Methods: The relevant studies were identified by searching medical research databases. We focused our search on studies published between 2000 and 2020 in order to reflect the latest scientific evidence. A total of 821 articles were identified in the initial database search and 27 articles were finally included for the review after the exclusion of duplicated and irrelevant articles. Results: Behavioral therapies including habit reversal training, Comprehensive Behavioral Intervention for Tics, and exposure and response prevention were the most widely studied interventions for tic disorder and are recommended as first-line treatments for tic disorders with high confidence. Cognitive psychophysiologic approaches were also reported to be effective. Conclusion: Further studies are needed to support the future treatment of tics with low-cost and more widely available treatments, in order to ensure better treatment outcomes.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.16 no.2
• /
• pp.183-191
• /
• 2005

Tic disorder including Tourette's disorder is a neurodevelopmental disorder that appears in childhood and characterized by the presence of motor and vocal tics. Childhood-onset obsessive-compulsive disorder (OCD) is suggested to be a phenomenologically and etiologically distinct subtype of OCD, bearing a close genetic relationship to tic-disorders. Tourette's disorder and OCD are comorbid in $40-75\%$ of patients initially diagnosed with either disorder. Basal ganglia and cortico-striato-thalamic circuits are implicated in the pathophysiology of both disorders and these disorders have similar clinical features. Over the past decades, the progress in research on Tourette's disorder and OCD has been extraordinary. This review describes some of important insights from these work, involving these areas : 1) clinical implication 2) genetics and epidemiology 3) brain imaging study 4) neuroche-mistry 5) pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS).

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.31 no.3
• /
• pp.105-120
• /
• 2020

Although autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, patients with ASD frequently manifest atypical sensory behaviors. Recently, atypical sensory perception in ASD has received much attention, yet little is known about its cause or neurobiology. Herein, we review the findings from neuroimaging studies related to visual perception in ASD. Specifically, we examined the neural underpinnings of visual detection, motion perception, and face processing in ASD. Results from neuroimaging studies indicate that atypical visual perception in ASD may be influenced by attention or higher order cognitive mechanisms, and atypical face perception may be affected by disrupted social brain network. However, there is considerable evidence for atypical early visual processing in ASD. It is likely that visual perceptual abnormalities are independent of deficits of social functions or cognition. Importantly, atypical visual perception in ASD may enhance difficulties in dealing with complex and subtle social stimuli, or improve outstanding abilities in certain fields in individuals with Savant syndrome. Thus, future research is required to elucidate the characteristics and neurobiology of autistic visual perception to effectively apply these findings in the interventions of ASD.

• Korean Journal of Biological Psychiatry
• /
• v.3 no.1
• /
• pp.3-13
• /
• 1996

Many studies have been conducted to search for the anatomical abnormalities in the brain which ore etiologically related with schizophrenia. Generally schizophrenia in known to be related with decreased brain tissue, hypofrontality and abnormalities in the temporal lobe including the hippocamypus, the agmygdala and the entorhinal cortex. Other areas related with the disorder ore basal ganglia, thalamus, brain stem, pons and nucleus accumbens. Abnormality in brain asymmetry is one of the new areas of interest which needs further study. The results so for ore inconsistent and it is unlikely that the abnormality in one structure is the only cause of the disorder. Rather, schizophrenia develops from the impairment of the parallel processing of integrated and reciprocal information which is distributed to the multiple structures. Histopathologic studies in the postmortem brain suggest that schizophrenia is related with neurodevelopmental abnormality rather than neurodegenerative abnormality.

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.27-30
• /
• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• Journal of Genetic Medicine
• /
• v.17 no.1
• /
• pp.43-46
• /
• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.