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A genome-wide linkage scan for distinct subsets of schizophrenia characterized by age at onset and neurocognitive deficits.

ABSTRACT: As schizophrenia is genetically and phenotypically heterogeneous, targeting genetically informative phenotypes may help identify greater linkage signals. The aim of the study is to evaluate the genetic linkage evidence for schizophrenia in subsets of families with earlier age at onset or greater neurocognitive deficits.Patients with schizophrenia (n ?=? 1,207) and their first-degree relatives (n ?=? 1,035) from 557 families with schizophrenia were recruited from six data collection field research centers throughout Taiwan. Subjects completed a face-to-face semi-structured interview, the Continuous Performance Test (CPT), the Wisconsin Card Sorting Test, and were genotyped with 386 microsatellite markers across the genome.A maximum nonparametric logarithm of odds (LOD) score of 4.17 at 2q22.1 was found in 295 families ranked by increasing age at onset, which had significant increases in the maximum LOD score compared with those obtained in initial linkage analyses using all available families. Based on this subset, a further subsetting by false alarm rate on the undegraded and degraded CPT obtained further increase in the nested subset-based LOD on 2q22.1, with a score of 7.36 in 228 families and 7.71 in 243 families, respectively.We found possible evidence of linkage on chromosome 2q22.1 in families of schizophrenia patients with more CPT false alarm rates nested within the families with younger age at onset. These results highlight the importance of incorporating genetically informative phenotypes in unraveling the complex genetics of schizophrenia.

SUBMITTER: Lien YJ

PROVIDER: S-EPMC3163684 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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A genome-wide linkage scan for distinct subsets of schizophrenia characterized by age at onset and neurocognitive deficits.

Lien Yin-Ju YJ Hsiao Po-Chang PC Liu Chih-Min CM Faraone Stephen V SV Tsuang Ming T MT Hwu Hai-Gwo HG Chen Wei J WJ

PloS one 20110829 8

<h4>Background</h4>As schizophrenia is genetically and phenotypically heterogeneous, targeting genetically informative phenotypes may help identify greater linkage signals. The aim of the study is to evaluate the genetic linkage evidence for schizophrenia in subsets of families with earlier age at onset or greater neurocognitive deficits.<h4>Methods</h4>Patients with schizophrenia (n = 1,207) and their first-degree relatives (n = 1,035) from 557 families with schizophrenia were recruited fro ...[more]

PMID: 21897869

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Project description:Trichotillomania (TTM), or compulsive hair pulling, is a common psychiatric disorder characterized by psychosocial impairment and reduced quality of life. The aim of this retrospective study was to characterize the impact of age at TTM onset on clinical variables and neuropsychological function using a variety of clinical and neurocognitive measures. The study sample included 98 adult treatment-seeking individuals with a DSM-IV diagnosis of TTM. Correlates were explored by grouping participants into childhood-onset (onset at ≤ 11 years old, n = 42) or later-onset (≥ 12 years old, n = 56) TTM and via linear regression. All subjects underwent a semistructured clinical interview with a psychiatrist and completed a variety of paper-pencil tests regarding TTM severity and quality of life. A subset (n = 44) of subjects underwent neurocognitive testing assessing motor inhibition and set-shifting compared to a sample (n = 27) of age- and gender-matched healthy controls. Data were collected from September 2006 through July 2011. Postpubertal age at onset was significantly associated with greater TTM symptom severity. Clinically, the later-onset group pulled their hair for a significantly greater amount of time daily (P = .008), had higher clinician-rated TTM severity on the Clinical Global Impressions-Severity of Illness scale (P = .042), and had higher patient-rated severity on the Massachusetts General Hospital Hairpulling Scale (P = .022) compared to healthy controls. On the neurocognitive tasks, later-onset TTM was characterized by stop-signal impairments (P = .020) and relatively spared set-shifting, consistent with previous studies in the literature. In contrast, the childhood-onset manifestation was associated with set-shifting deficits in stages of the task completed and total errors adjusted (both P < .001) but relatively spared stop-signal performance compared to healthy controls. Results indicate that childhood-onset of TTM is common, as confirmed by the fact that 42.9% of our sample met childhood-onset criteria, and may differ neurobiologically from the prototypical later-onset form. Future neurobiological and treatment studies should measure age at onset and explore further these putative differences.Trial Registration ClinicalTrials.gov identifiers: NCT00354770 and NCT00775229.

Project description:IntroductionThere have been more than 425 million COVID-19 infections worldwide. Post-COVID illness has become a common, disabling complication of this infection. Therefore, it presents a significant challenge to global public health and economic activity.MethodsComprehensive clinical assessment (symptoms, WHO performance status, cognitive testing, CPET, lung function, high-resolution CT chest, CT pulmonary angiogram and cardiac MRI) of previously well, working-age adults in full-time employment was conducted to identify physical and neurocognitive deficits in those with severe or prolonged COVID-19 illness.Results205 consecutive patients, age 39 (IQR30.0-46.7) years, 84% male, were assessed 24 (IQR17.1-34.0) weeks after acute illness. 69% reported ≥3 ongoing symptoms. Shortness of breath (61%), fatigue (54%) and cognitive problems (47%) were the most frequent symptoms, 17% met criteria for anxiety and 24% depression. 67% remained below pre-COVID performance status at 24 weeks. One third of lung function tests were abnormal, (reduced lung volume and transfer factor, and obstructive spirometry). HRCT lung was clinically indicated in <50% of patients, with COVID-associated pathology found in 25% of these. In all but three HRCTs, changes were graded 'mild'. There was an extremely low incidence of pulmonary thromboembolic disease or significant cardiac pathology. A specific, focal cognitive deficit was identified in those with ongoing symptoms of fatigue, poor concentration, poor memory, low mood, and anxiety. This was notably more common in patients managed in the community during their acute illness.ConclusionDespite low rates of residual cardiopulmonary pathology, in this cohort, with low rates of premorbid illness, there is a high burden of symptoms and failure to regain pre-COVID performance 6-months after acute illness. Cognitive assessment identified a specific deficit of the same magnitude as intoxication at the UK drink driving limit or the deterioration expected with 10 years ageing, which appears to contribute significantly to the symptomatology of long-COVID.

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A genome-wide linkage scan for distinct subsets of schizophrenia characterized by age at onset and neurocognitive deficits.

Publications

A genome-wide linkage scan for distinct subsets of schizophrenia characterized by age at onset and neurocognitive deficits.

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