Genetics of obsessive-compulsive disorder

Mahjani, Behrang; Bey, Katharina; Boberg, Julia; Burton, Christie L.

doi:10.1017/s0033291721001744

Cited by 58 publications

(37 citation statements)

References 158 publications

(201 reference statements)

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“…In pediatric OCD, individuals have a two-fold higher risk of having a first-degree relative with OCD as compared to adult-onset cases. The current understanding of the genetics of OCD has been extensively reviewed in the literature ( 23 ).…”

Section: Symptom Presentationmentioning

confidence: 99%

Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype

et al. 2022

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Obsessive compulsive disorder (OCD) and chronic tic disorders (CTD) including Tourette Syndrome (TS) are often comorbid conditions. While some patients present with distinct symptoms of CTD and/or OCD, a subset of patients demonstrate a unique overlap of symptoms, known as Tourettic OCD (TOCD), in which tics, compulsions, and their preceding premonitory urges are overlapping and tightly intertwined. The specific behaviors seen in TOCD are typically complex tic-like behaviors although with a compulsive and partially anxious nature reminiscent of OCD. TOCD is not classified within the Diagnostic and Statistical Manual of Mental Disorders fifth edition (DSM-5) as an independent diagnostic entity, but mounting evidence suggests that TOCD is an intermediate neuropsychiatric disorder distinct from either TS or OCD alone and as such represents a unique phenomenology. In this review of TOCD we discuss clinical, genetic, environmental, neurodevelopmental, and neurocircuit-based research to better characterize our current understanding of this disorder. TOCD is characterized by earlier age of onset, male predominance, and specific symptom clusters such as lower tendency toward compulsions related to checking, cleaning, and reassurance seeking and higher tendency toward compulsions such as rubbing, tapping, or touching associated with symmetry concerns or thoughts of exactness. Functional magnetic resonance imaging (fMRI) imaging suggests that TOCD symptoms may arise from involvement of an intermediate neurocircuitry distinct from classic OCD or classic CTD. Small cumulative contributions from multiple genetic loci have been implicated, as have environmental factors such as infection and perinatal trauma. In addition, this review addresses the treatment of TOCD which is especially complex and often treatment resistant and requires pharmacology and behavioral therapy in multiple modalities. Given the distressing impact of TOCD on patients’ functioning, the goal of this review is to raise awareness of this distinct entity toward the goal of improving standards of care.

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Section: Symptom Presentationmentioning

confidence: 99%

Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype

et al. 2022

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“…Although the etiology of OCD is unknown, a study on magnetic resonance spectroscopy has suggested dominance of excitatory versus inhibitory factors in brain circuits during goaldirected behaviors (Ivarsson et al, 2021). OCD clusters in families and twin studies have demonstrated that it is a heritable, polygenic disorder that shares genetic risk with comorbid anorexia nervosa and Tourette syndrome (Mahjani et al, 2021).…”

Section: Obsessive Compulsive Disordermentioning

confidence: 99%

Cognitive behavior therapy for obsessive compulsive disorder in youth: a narrative review

2022

AJPRR

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This narrative review is organized around the primary symptoms of obsessive compulsive disorder (OCD) including physical and cognitive symptoms and the effectiveness of cognitive behavior therapy (CBT) in reducing these symptoms in youth with an OCD diagnosis. These are followed by sections on the comorbidities of OCD including anxiety and depression, the effective delivery of CBT via both internet and in-person, the greater effectiveness of CBT versus pharmacotherapy, the use of alternative therapies and the negative effects of COVID-19 on both OCD and CBT.The review concludes with limitations of the literature and suggested future directions

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“…Rare secondary forms of OCD may occur in the context of genetic syndromes, such as Turner syndrome (Moonga et al 2017 ). To date, little is known about syndromic OCD (Mahjani et al 2021 ). The rationale of the current paper is to describe the first patient with obsessive–compulsive symptoms (OCS) and ACTG1 -associated Baraitser-Winter cerebrofrontofacial syndrome.…”

Section: Introductionmentioning

confidence: 99%

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

et al. 2022

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Symptoms of obsessive–compulsive disorder (OCD) may rarely occur in the context of genetic syndromes. So far, an association between obsessive–compulsive symptoms (OCS) and ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome has not been described as yet. A thoroughly phenotyped patient with OCS and ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome is presented. The 25-year-old male patient was admitted to in-patient psychiatric care due to OCD. A whole-exome sequencing analysis was initiated as the patient also showed an autistic personality structure, below average intelligence measures, craniofacial dysmorphia signs, sensorineural hearing loss, and sinus cavernoma as well as subtle cardiac and ophthalmological alterations. The diagnosis of Baraitser-Winter cerebrofrontofacial syndrome type 2 was confirmed by the detection of a heterozygous likely pathogenic variant in the ACTG1 gene [c.1003C > T; p.(Arg335Cys), ACMG class 4]. The automated analysis of magnetic resonance imaging (MRI) revealed changes in the orbitofrontal, parietal, and occipital cortex of both sides and in the right mesiotemporal cortex. Electroencephalography (EEG) revealed intermittent rhythmic delta activity in the occipital and right temporal areas. Right mesiotemporal MRI and EEG alterations could be caused by a small brain parenchymal defect with hemosiderin deposits after a cavernomectomy. This paradigmatic case provides evidence of syndromic OCS in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. The MRI findings are compatible with a dysfunction of the cortico-striato-thalamo-cortical loops involved in OCD. If a common pathophysiology is confirmed in future studies, corresponding patients with Baraitser-Winter cerebrofrontofacial syndrome type 2 should be screened for OCS. The association may also contribute to a better understanding of OCD pathophysiology.

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Genetics of obsessive-compulsive disorder

Cited by 58 publications

References 158 publications

Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype

Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype

Cognitive behavior therapy for obsessive compulsive disorder in youth: a narrative review

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

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