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Parietal Cortex Volume and Functions in Major Depression and Bipolar Disorder: A Cloud-Based Magnetic Resonans Imaging Study. 重度抑郁症和双相情感障碍的顶叶皮质体积和功能:基于云的磁共振成像研究
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-26 eCollection Date: 2024-01-01 DOI: 10.29399/npa.28253
Fatma Kiliç, Fatma Kartal, Mehmet Fatih Erbay, Rıfat Karlidağ

Introduction: The present study aimed to compare the Parietal Lobe (PL) volumes and Cancellation Test (CT) performances of euthymic patients with Bipolar Disorder-1 (BD) and Major Depressive Disorder (MDD), and healthy controls.

Methods: The present study included 63 participants in three groups; two patient groups in remission involving patients with BD and MDD diagnosed according to DSM-5 and a control group with healthy individuals. Sociodemographic Data Form, CT, and Hand Preference Questionnaire were applied to all participants. Participant PL volumes were measured with the Cloud-Based Brain Magnetic Resonance Image Segmentation - Parcellation System.

Results: Both patient groups exhibited lower PL volume when compared to the control group, and there was no difference between the patient groups based on PL volume. It was determined that MDD and BB patients scored less in the CT when compared to the control group. There was a weak correlation between right and left PL volumes and CT performances.

Conclusion: The present study findings demonstrated that BD and MDD patients in remission exhibited lower PL volume and CT performance when compared to healthy controls, emphasizing that PL could be structurally and functionally significant in the pathophysiology of mood disorders.

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引用次数: 0
Autoimmune Etiologies with The Potential to Transform Psychiatric Practice: Experiences from a Neuropsychiatry Unit.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-20 eCollection Date: 2025-01-01 DOI: 10.29399/npa.29053
Rifat Serav İlhan, Berker Duman
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引用次数: 0
The Role of Resolvin D1 in Indicating Chronic Inflammation and Axonal Damage in Bipolar Disorder: A Comparative Study of Manic and Depressive Episodes.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-20 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28891
Burcu Kök Kendirlioğlu, Özge Yüksel Öksüz, Tevfik Kalelioğlu, Şule Sözen, Pelin Ünalan Özperçin, Refik Cihnioğlu, Nesrin Karamustafalıoğlu

Introduction: Bipolar disorder (BD) is a chronic disorder associated with significant psychiatric morbidity and disability. Recent research has linked inflammatory processes to the pathology of BD. Resolvin D1 (RvD1), an anti-inflammatory molecule derived from eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), has been shown to inhibit apoptosis and neuroinflammation, and promote neurogenesis. This study aims to determine changes in serum RvD1 levels between acute episode and euthymic periods in patients with BD and their association with inflammatory and metabolic syndrome (MetS) parameters.

Methods: This prospective clinical study was conducted with patients diagnosed with BD-I according to SCID-5. Patients whose serum RvD1 levels were assessed during manic and depressive episodes in the previous study were invited to return to the study after at least 8 weeks, when they had reached the euthymic period. Blood samples for RvD1, C-reactive protein (CRP), and hemogram tests were collected during both acute episodes and remission periods.

Results: The study included 32 patients in manic episodes, 27 in depressive episodes, and 41 healthy controls, with no significant age difference among the groups. RvD1 levels decreased significantly from manic episodes to complete remission period (p=0.017, z=-2.391) during follow-up. The decrease from depression to remission was not statistically significant. Serum RvD1 levels in patients with depressive episodes in remission remained high in the control group (p=0.581, z=-0.553). During the follow-up period, white blood cell (p=0.009, z=-2.606) and neutrophil (p=0.007, z=-2.693) in mania period and CRP values in depression period (p=0.004, z=-2.880) were found to have decreased statistically.

Conclusions: The study indicates that serum RvD1 levels are elevated during manic and depressive episodes in BD patients compared to healthy controls and decrease significantly during the remission period in patients with manic episode. We propose the potential utility of RvD1 as a diagnostic marker for identifying manic and depressive states. We can assume that there is an inflammatory process in BD in which RvD1 also plays a role. Further research is needed to explore the therapeutic potential of targeting RvD1 pathways in BD treatment.

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引用次数: 0
CADASIL Syndrome Presenting as Obsessive-Compulsive Disorder: A Case Report. 表现为强迫症的 CADASIL 综合征:病例报告。
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-20 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28683
Derya Canlı, Mesut Keskin

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a small vessel disease. It is an autosomal dominant inherited disease caused by a mutation in the Notch3 gene. Clinically, it usually presents with recurrent transient ischemic attacks, strokes, vascular dementia, migraine with aura, cognitive impairments and psychiatric symptoms. Cranial MRI is the most useful imaging modality to demonstrate the characteristic radiological findings of CADASIL and gene analysis is the gold standard for diagnosis. Although the clinical manifestations are mainly neurological, CADASIL can also present with psychiatric disorders. Psychiatric disorders are one of the main clinical manifestations of the disease, with a prevalence rate ranging from 20 to 41%. Among psychiatric disorders, mood disorders are the most commonly reported, and other psychiatric diagnoses include psychotic disorders, anxiety disorders, adjustment disorder, personality disorders, behavioral disorders, substance dependence and abuse. In this case report, a paitent with CADASIL presenting with obsessive-compulsive disorder at a relatively young age will be presented.

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引用次数: 0
Idiopathic Parkinson's Disease and Neuro-ophthalmological Findings: A Study on Neurodegeneration in the Retinal Nerve Fiber Layer and Cognitive Functions.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-20 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28670
Sibel Çekiç, Bilge Piri Çınar, Esra Acıman Demirel, Mehmet Orçun Akdemir, Ulufer Çelebi, Mustafa Açıkgöz, Hüseyin Tuğrul Atasoy

Introduction: This study was designed to explore the relationship between retinal nerve fiber layer (RNFL) thickness and cognition in Idiopathic Parkinson's disease (IPD) patients without visual symptoms or diagnosis of dementia.

Methods: Groups of patients with idiopathic Parkinson's disease and healthy controls were compared ophthalmologically using optical coherence tomography (OCT) and cognitively through neuropsychological tests.

Results: The findings highlighted a pronounced RNFL thinning, especially in the right nasal inferior quadrant of IPD patients compared to the control group. Almost half (47%) of the subjects in the IPD group exhibited issues in one or multiple subcomponents of Addenbrooke's Cognitive Examination-Revised (ACE-R). At the same time, the study suggested that effects in the visuospatial domain may be associated with disease severity in IPD patients. However, the investigation could not establish a direct association between the severity or duration of the disease and OCT measurements. A correlation was observed between certain ACE-R scores and some RNFL quadrants.

Conclusion: In conclusion, the inception phases of IPD are characterized by discernable visual pathologies and cognitive anomalies. The thinning of the RNFL, which can be identified through OCT, might serve as a pivotal tool for tracking the early progression of IPD and formulating intervention strategies. That being said, more comprehensive studies are essential to wholly understand OCT's role in the early diagnosis and monitoring of IPD.

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引用次数: 0
Decision Making, Emotion Recognition and Childhood Traumatic Experiences in Murder Convicts Imprisoned with Aggravated Life Sentence: A Prison Study.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-20 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28778
Uğur Çıkrıkçılı, Elif Yıldırım, Seda Buker, Can Ger, Ozan Erözden, Hakan Gürvit, Bilgin Saydam

Introduction: Decision-making and emotion recognition are two fundamental themes in social cognition. Disorders in these areas can lead to interpersonal, psychosocial, and legal problems for the individual and society. The likelihood of consequent aggression and crime makes them foci of forensic psychiatry over time. In this study, two developmental disorders that have a clear relationship with crime, that are antisocial personality disorder (ASPD), and psychopathy are investigated for their relationship with these social cognitive deficits.

Methods: The present study involved 23 male prison inmates who were diagnosed with both antisocial personality disorder and psychopathy, as well as 23 control participants who were matched for age, gender, and level of education. Following the psychiatric interview, Reading the Mind in the Eyes Test (RMET), the Iowa Gambling Test (IGT), Toronto Alexithymia Scale (TAS), Defense Styles Questionnaire (DSQ), Childhood Psychic Trauma Scale (CTQ), Hare Psychopathy Checklist (PCL-R) were administered to all participants.

Results: The results of the study showed that ASPD group performed statistically worse than healthy controls in TAS, CTQ, all items of DSQ, PCL-R Factor 1 and 2, and all the IGT scores (p<0.05). There were no statistically significant difference between in the RMET test performances.

Conclusion: These results suggest that ASPD and psychopathy lead to impaired decision-making behaviors due to the inability to recognize one's own emotions and impulsivity, and that these characteristics play a critical role in the criminal behavior of individuals. In addition, contrary to expectations, the results of affective theory of mind assessed with the RMET showed similar characteristics in homicide convicts and healthy controls. These data indicate the need for further research in the field of forensic psychiatry.

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引用次数: 0
Anti-Ri Associated Paraneoplastic Cervical Dystonia and Laryngospasm in a Patient with Nasopharyngeal Carcinoma.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-15 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28517
Haşmet Hanağası, Arman Çakar, Figen Hanağası, Bedia Samancı, Zeynep Tüfekçioğlu, Başar Bilgiç, Murat Emre

Oromandibular dystonia and laryngospasm are defined as paraneoplastic syndromes of anti-Ri antibody. Herein, we report a 50-year-old woman admitted to the outpatient clinic with cervical contraction, speech and gait disturbance, and mental deterioration persisting for one year. She was diagnosed with undifferentiated nasopharyngeal carcinoma during further examination for two years of tinnitus and underwent radiotherapy. Her neurological symptoms started six months after radiotherapy. During this period, she underwent a tracheostomy due to a sudden laryngospasm. Anti-Ri antibody was positive in the paraneoplastic antibody screening. Her cervical dystonia and mental deterioration partially improved with intravenous pulse steroid and immunoglobulin therapies. However, the patient deceased due to aspiration pneumonia after six months. This rare clinical presentation, characterized by cervical dystonia, laryngospasm, spastic quadriparesis, and mental deterioration, should be considered anti-Ri antibody-associated paraneoplastic syndrome for patients with nasopharyngeal carcinoma.

{"title":"Anti-Ri Associated Paraneoplastic Cervical Dystonia and Laryngospasm in a Patient with Nasopharyngeal Carcinoma.","authors":"Haşmet Hanağası, Arman Çakar, Figen Hanağası, Bedia Samancı, Zeynep Tüfekçioğlu, Başar Bilgiç, Murat Emre","doi":"10.29399/npa.28517","DOIUrl":"10.29399/npa.28517","url":null,"abstract":"<p><p>Oromandibular dystonia and laryngospasm are defined as paraneoplastic syndromes of anti-Ri antibody. Herein, we report a 50-year-old woman admitted to the outpatient clinic with cervical contraction, speech and gait disturbance, and mental deterioration persisting for one year. She was diagnosed with undifferentiated nasopharyngeal carcinoma during further examination for two years of tinnitus and underwent radiotherapy. Her neurological symptoms started six months after radiotherapy. During this period, she underwent a tracheostomy due to a sudden laryngospasm. Anti-Ri antibody was positive in the paraneoplastic antibody screening. Her cervical dystonia and mental deterioration partially improved with intravenous pulse steroid and immunoglobulin therapies. However, the patient deceased due to aspiration pneumonia after six months. This rare clinical presentation, characterized by cervical dystonia, laryngospasm, spastic quadriparesis, and mental deterioration, should be considered anti-Ri antibody-associated paraneoplastic syndrome for patients with nasopharyngeal carcinoma.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"62 1","pages":"94-96"},"PeriodicalIF":1.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Evaluation of Metacognitive Functions in Obsessive-Compulsive Disorder. 评估强迫症患者的元认知功能。
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-10 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28707
İlker Güneysu, Esma Akpınar Aslan, Sedat Batmaz, Seda Güneysu

Introduction: In metacognitive theory, thought fusion beliefs, beliefs about rituals, and beliefs about stop signals predict obsessive-compulsive symptoms. The number of controlled studies using specific scales to assess these three belief domains in different cultures is limited.

Methods: The comparison sample consisted of patients with obsessive-compulsive disorder (n: 106) and control (n: 200) group. Participants filled out the Obsessive-Compulsive Inventory-Revised form, Penn State Worry Scale, Obsessive Beliefs Scale-44, Thought Fusion Inventory, Beliefs about Rituals Inventory and Stop Signs Questionnaire. Correlation analysis of worry and OCD symptom severity levels, cognitions and metacognitions in OCD were performed between groups. Worry, cognition and metacognitive predictors of obsessive-compulsive symptoms were analyzed with a hierarchical linear regression model.

Results: The metacognitive scale scores were significantly higher in the OCD group than in the control group except for hoarding (p<0.001). Obsessive-compulsive symptoms were statistically positively correlated (r: 0.17-0.53) with all three metacognitive functions in the OCD and control groups (except ordering in the control group). In addition to the three metacognitive domains, worry, perfectionism and intolerance of uncertainty predicted obsessive-compulsive symptoms (p<0.05). All three metacognitive domains contributed to the variance in the hierarchical regression model in addition to worry and cognitions (p<0.05).

Conclusion: All the three metacognitive domains were correlated with OCD symptom severity. Metacognitions explained additional variance above and beyond cognitions. Metacognitive assessment domains of OCD predicted OCD symptom severity when included in the hierarchical regression model.

{"title":"An Evaluation of Metacognitive Functions in Obsessive-Compulsive Disorder.","authors":"İlker Güneysu, Esma Akpınar Aslan, Sedat Batmaz, Seda Güneysu","doi":"10.29399/npa.28707","DOIUrl":"10.29399/npa.28707","url":null,"abstract":"<p><strong>Introduction: </strong>In metacognitive theory, thought fusion beliefs, beliefs about rituals, and beliefs about stop signals predict obsessive-compulsive symptoms. The number of controlled studies using specific scales to assess these three belief domains in different cultures is limited.</p><p><strong>Methods: </strong>The comparison sample consisted of patients with obsessive-compulsive disorder (n: 106) and control (n: 200) group. Participants filled out the Obsessive-Compulsive Inventory-Revised form, Penn State Worry Scale, Obsessive Beliefs Scale-44, Thought Fusion Inventory, Beliefs about Rituals Inventory and Stop Signs Questionnaire. Correlation analysis of worry and OCD symptom severity levels, cognitions and metacognitions in OCD were performed between groups. Worry, cognition and metacognitive predictors of obsessive-compulsive symptoms were analyzed with a hierarchical linear regression model.</p><p><strong>Results: </strong>The metacognitive scale scores were significantly higher in the OCD group than in the control group except for hoarding (p<0.001). Obsessive-compulsive symptoms were statistically positively correlated (r: 0.17-0.53) with all three metacognitive functions in the OCD and control groups (except ordering in the control group). In addition to the three metacognitive domains, worry, perfectionism and intolerance of uncertainty predicted obsessive-compulsive symptoms (p<0.05). All three metacognitive domains contributed to the variance in the hierarchical regression model in addition to worry and cognitions (p<0.05).</p><p><strong>Conclusion: </strong>All the three metacognitive domains were correlated with OCD symptom severity. Metacognitions explained additional variance above and beyond cognitions. Metacognitive assessment domains of OCD predicted OCD symptom severity when included in the hierarchical regression model.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"62 1","pages":"62-68"},"PeriodicalIF":1.0,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Effect of Smoking and Passive Exposure on Multiple Sclerosis and Correlation with IL17 & IL23 Levels.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-07 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28790
Ayşe Deniz Elmalı, Gizem Oral, Nurcan Orhan, Ayşe Altıntaş

Introduction: The aim of the study was to investigate whether there is any effect of smoking status or passive exposure on different subtypes of multiple sclerosis (MS) and their association with the IL17 & IL23 levels.

Methods: Blood samples were obtained from patients diagnosed with clinically isolated syndrome (CIS), relapsing remitting MS (RRMS), primary progressive MS (PPMS), secondary progressive MS (SPMS) and healthy controls. Smoking habits and passive exposure were questioned via a specifically created questionnaire. Patients and controls were grouped into three subgroups according to smoking status as active smokers, former smokers and never smokers.

Results: There were 60 patients and 20 age and sex-matched healthy controls. Active smoking was associated with a higher relapse rate per year. Smoking was inversely proportional to IL23 levels. Passive smoking was associated with atrophy in the follow-up cranial MRI. In utero exposure was associated with a polysymptomatic disease onset. The onset symptoms differed between patients whose mothers smoked during their childhood.

Conclusıon: This study shows the effects of smoking and passive smoking on the presenting symptoms and course of MS. The relationship between these adverse effects and the Th17 pathway is not clear. It is evident that MS patients should be advised against smoking and should be directed to programs for quitting smoking.

{"title":"The Effect of Smoking and Passive Exposure on Multiple Sclerosis and Correlation with IL17 & IL23 Levels.","authors":"Ayşe Deniz Elmalı, Gizem Oral, Nurcan Orhan, Ayşe Altıntaş","doi":"10.29399/npa.28790","DOIUrl":"10.29399/npa.28790","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to investigate whether there is any effect of smoking status or passive exposure on different subtypes of multiple sclerosis (MS) and their association with the IL17 & IL23 levels.</p><p><strong>Methods: </strong>Blood samples were obtained from patients diagnosed with clinically isolated syndrome (CIS), relapsing remitting MS (RRMS), primary progressive MS (PPMS), secondary progressive MS (SPMS) and healthy controls. Smoking habits and passive exposure were questioned via a specifically created questionnaire. Patients and controls were grouped into three subgroups according to smoking status as active smokers, former smokers and never smokers.</p><p><strong>Results: </strong>There were 60 patients and 20 age and sex-matched healthy controls. Active smoking was associated with a higher relapse rate per year. Smoking was inversely proportional to IL23 levels. Passive smoking was associated with atrophy in the follow-up cranial MRI. In utero exposure was associated with a polysymptomatic disease onset. The onset symptoms differed between patients whose mothers smoked during their childhood.</p><p><strong>Conclusıon: </strong>This study shows the effects of smoking and passive smoking on the presenting symptoms and course of MS. The relationship between these adverse effects and the Th17 pathway is not clear. It is evident that MS patients should be advised against smoking and should be directed to programs for quitting smoking.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"62 1","pages":"54-61"},"PeriodicalIF":1.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Process of Diagnosing Xia Gibbs Syndrome in A Male Child with Autism Spectrum Disorder and AHDC1 Gene Mutation: Case Report.
IF 1 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-02-06 eCollection Date: 2025-01-01 DOI: 10.29399/npa.28555
Burcu Kardaş, Beyza Topçu, Ayşe Böyük Şahin, Şahika Gülen Şişmanlar

Xia Gibbs Syndrome (XGS) is a rare disorder with different phenotypic and behavioral manifestations and clinical reflections known to develop as a result of de novo mutations in the AT-Hook DNA binding motif (AHDC1). Our patient was first evaluated in the pediatric psychiatry clinic at the age of 2 because of speech delay. The patient was followed up with a diagnosis of cognitive retardation and joint hypermobility was found as a result of pediatric neurology consultation due to his dysmorphic appearance. No pathology was found in detailed blood tests and imaging studies. During the follow-up period, it was determined that the cognitive skills gained between the ages of 4-4.5 started to regress, there was no joint attention, but there was stereotypic movements and limitation in eye contact. In the detailed genetic evaluation performed due to the deterioration in the clinical course and the addition of the diagnosis of Autism Spectrum Disorder, a mutation compatible with Xia Gibbs Syndrome was found in the whole exon sequencing test. Repeated psychiatric and medical evaluation as part of a multidisciplinary approach in rare genetic diseases such as Xia Gibbs Syndrome is important for educational planning and treatment of comorbidities. With this case, we wanted to emphasize the importance of psychiatric follow-up and further investigations especially in cases with loss of acquired skills after diagnosis.

{"title":"The Process of Diagnosing Xia Gibbs Syndrome in A Male Child with Autism Spectrum Disorder and AHDC1 Gene Mutation: Case Report.","authors":"Burcu Kardaş, Beyza Topçu, Ayşe Böyük Şahin, Şahika Gülen Şişmanlar","doi":"10.29399/npa.28555","DOIUrl":"10.29399/npa.28555","url":null,"abstract":"<p><p>Xia Gibbs Syndrome (XGS) is a rare disorder with different phenotypic and behavioral manifestations and clinical reflections known to develop as a result of de novo mutations in the AT-Hook DNA binding motif (AHDC1). Our patient was first evaluated in the pediatric psychiatry clinic at the age of 2 because of speech delay. The patient was followed up with a diagnosis of cognitive retardation and joint hypermobility was found as a result of pediatric neurology consultation due to his dysmorphic appearance. No pathology was found in detailed blood tests and imaging studies. During the follow-up period, it was determined that the cognitive skills gained between the ages of 4-4.5 started to regress, there was no joint attention, but there was stereotypic movements and limitation in eye contact. In the detailed genetic evaluation performed due to the deterioration in the clinical course and the addition of the diagnosis of Autism Spectrum Disorder, a mutation compatible with Xia Gibbs Syndrome was found in the whole exon sequencing test. Repeated psychiatric and medical evaluation as part of a multidisciplinary approach in rare genetic diseases such as Xia Gibbs Syndrome is important for educational planning and treatment of comorbidities. With this case, we wanted to emphasize the importance of psychiatric follow-up and further investigations especially in cases with loss of acquired skills after diagnosis.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"62 1","pages":"84-86"},"PeriodicalIF":1.0,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Noropsikiyatri Arsivi-Archives of Neuropsychiatry
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