Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Stereotypies have been defined as non-goal-directed movement patterns repeated continuously for a period of time in the same form and on multiple occasions, and which are typically distractible. Stereotypical motor behaviors are a common clinical feature of a variety of neurological conditions that affect cortical and subcortical functions, including autism, tardive dyskinesia, excessive dopaminergic treatment of Parkinson's disease and frontotemporal dementia. The main differential diagnosis of stereotypies includes tic disorders, motor mannerisms, compulsion and habit. The pathophysiology of stereotypies may involve the corticostriatal pathways, especially the orbitofrontal and anterior cingulated cortices. Because antipsychotics have long been used to manage stereotypical behaviours in mental retardation, stereotypies that present in isolation tend not to warrant pharmacological intervention, as the benefit-to-risk ratio is not great enough.
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PMID:Adult-onset stereotypical motor behaviors. 2749 41

22q11.2 deletion syndrome (22q11.2 DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome. Psychiatric symptoms were recently shown to be very common in patients with 22q11.2 DS, prompting greater interest in this syndrome. Early diagnosis during childhood based on a con- stellation of physical features is optimal ; however, as some patients remain undiagnosed until the presentation of other symptoms in adult life, psychiatrists are well advised to familiarize themselves with basic information concerning 22q11.2 DS. A 25-year-old woman presenting with auditory hallucinations was referred to A hospital for examination and treatment. Her family history revealed both paternal and maternal rela- tives with schizophrenia. At birth, she presented a cleft palate and ventricular septum defect. She first became ambulatory at age 4 and became verbal a year later. Her intelligence quotient was estimated at around 40 and mental retardation (DSM-IV) with autistic features was diag- nosed at age 7. After graduating from a special high school, she obtained fulltime employment in a workshop. However, auditory hallucinations began disrupting her life from 22 years of age. Although olanzapine temporarily alleviated her symptoms, the resultant extrapyramidal symp- toms worsened and she was referred to A hospital again at age 25. The patient presented with micrognathia and a flat nasal root and spoke a maximum of 3 words per sentence in a very high and indistinct tone. A cardiac defect (ventricular septal defect), scoliosis, and low platelets were also observed. The diagnosis of 22qll.2 DS was confirmed using fluorescence in situ hybridization (FISH). The patient and her family were subsequently introduced to a 22q11.2 DS patients' support group. Careful genetic counseling is paramount, but the diagnosis of 22q11.2 DS can make updated information, official aid, and access to support groups available to patients and their family. Emergency complications such as seizures due to hypocalcemia can also be anticipated. The comparatively late diagnosis of 22q11.2 DS in our patient, which went undetected until the presentation of auditory hallucinations, in the context of mental retardation with autis- tic features (DSM-IV) underscores the importance of detailed clinical observation. "One rare variant" possibly points out the essence of psychiatric pathophysiology. Moreover, 22q11.2 DS has been listed as an intractable disease in Japan since 2015. When patients present with neurodevelopmental disorders and schizophrenic symptoms, we should carefully observe their physical features for clues to the possible diagnosis of 22q11.2 DS.
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PMID:[An Adult Case of 22q11.2 Deletion Syndrome with Congenital Abnormalities and Neurodevelopmental Disorders, Which Remained Undiagnosed Until Presentation of Auditory Hallucinations]. 3062 63

Objective: Body mass index undergoes a substantial change in some psychiatric disorders. This study aimed to explore the status of body mass index (BMI) in different psychiatric disorders in a national survey among children and adolescents and to identify the role of gender in this regard. Method : A total of 30 532 children and adolescents were randomly selected using cluster sampling method with equal blocks of three age groups and two genders. Psychiatric disorders were assessed using a standardized face-to-face diagnostic interview of Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (KSADS-PL), and Body Mass Index (BMI) was measured for each participant. Results: In this study, 22 730 children and adolescents (109 46 boys and 11784 girls), with valid data of BMI, completed the KSADS-PL interview. The prevalence of psychiatric disorders was 21.2% among underweight participants, 22.8% among overweight participants, and 22.2% among obese participants, which was significantly higher than normal weight participants with 19.6% (X2 = 17.55; p = 0.001). In boys' subgroup, depression and separation anxiety were mostly seen among the underweight category, while tic disorder was mostly seen in the obese category. In girls' subgroup, on the other hand, generalized anxiety was mostly observed in the underweight category, while oppositional defiant disorder (ODD), depression, and mental retardation were mostly observed in the obese category. In total, the highest mean BMI rates were among the children and adolescents with alcohol abuse disorder, mania, and panic disorder. However, the lowest BMI rates were among those with attention deficit hyperactivity disorder (ADHD), separation anxiety disorder (SAD), and enuresis. Conclusion: This study gives an overall picture of BMI status in different psychiatric disorders according to gender. Furthermore, in a multidisciplinary approach, the results of this study drew the attention of child psychiatrists to the status of BMI in their clients.
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PMID:Body Mass Index Status across Different Psychiatric Disorders in a National Survey amongst Children and Adolescents: To Identify the Role of Gender. 3207 98


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