Body-Focused Repetitive Behaviors in Patients with FOXP1 Syndrome: An International Cross-Sectional Survey-Based Study.

Introduction: FOXP1 syndrome is a rare neurodevelopmental disorder due to forkhead box protein 1 (FOXP1) gene mutations and is associated with intellectual disability, dysmorphic features, and autism spectrum disorder. We aimed to assess body-focused repetitive behavior (BFRB) prevalence in this patient population using a cross-sectional survey-based study. Methods: A validated survey assessing for BFRBs was administered to parents attending the International FOXP1 Foundation conference on June 21, 2023, and was sent to a FOXP1 syndrome listserv. Results: Excoriation disorder, onychophagia, onychotillomania, and trichotillomania were reported by 58.6%, 38.6%, 29.7%, and 10.0% of subjects, with 63.4%, 59.3%, 54.5%, and 14.3% having moderate to severe disease, respectively. Overall, 28.6%, 30.0%, and 10.0% had one, two, and three BFRBs, respectively. Conclusion: Prevalence of BFRBs is high among FOXP1 syndrome patients surveyed, affecting quality of life for patients and their families and causing significant sequelae.

Ileal Trichobezoar Presenting with Acute Appendicitis and Intestinal Obstruction: A Rare Case Report and Review of Literature.

Trichobezoar is a rare diagnosis among pediatric patients highlighting underlying psychiatric illness. Gastric bezoar with a long tail extending into small bowel may present with varied presentation including small bowel obstruction. Isolated small bowel trichobezoar is rare making diagnosis difficult highlighted in the index case.

The genetics of trichotillomania and excoriation disorder: A systematic review.

BACKGROUND: Trichotillomania (TTM) and excoriation disorder (ED) are impairing obsessive-compulsive related disorders that are common in the general population and for which there are no clear first-line medications, highlighting the need to better understand the underlying biology of these disorders to inform treatments. Given the importance of genetics in obsessive-compulsive disorder (OCD), evaluating genetic factors underlying TTM and ED may advance knowledge about the pathophysiology of these body-focused repetitive behaviors. AIM: In this systematic review, we summarize the available evidence on the genetics of TTM and ED and highlight gaps in the field warranting further research. METHOD: We systematically searched Embase, PsycInfo, PubMed, Medline, Scopus, and Web of Science for original studies in genetic epidemiology (family or twin studies) and molecular genetics (candidate gene and genome-wide) published up to June 2023. RESULTS: Of the 3536 records identified, 109 studies were included in this review. These studies indicated that genetic factors play an important role in the development of TTM and ED, some of which may be shared across the OCD spectrum, but there are no known high-confidence specific genetic risk factors for either TTM or ED. CONCLUSIONS: Our review underscores the need for additional genome-wide research conducted on the genetics of TTM and ED, for instance, genome-wide association and whole-genome/whole-exome DNA sequencing studies. Recent advances in genomics have led to the discovery of risk genes in several psychiatric disorders, including related conditions such as OCD, but to date, TTM and ED have remained understudied.

Neurocognitive functioning in adults with trichotillomania: Predictors of treatment response and symptom severity in a randomized control trial.

Trichotillomania (TTM) is associated with impairments in response inhibition and cognitive flexibility, but it is unclear how such impairments relate to treatment outcome. The present study examined pre-treatment response inhibition and cognitive flexibility as predictors of treatment outcome, change in these domains from pre-to post-treatment, and associations with TTM severity. Participants were drawn from a randomized controlled trial comparing acceptance-enhanced behavior therapy (AEBT) to psychoeducation and supportive therapy (PST) for TTM. Adults completed assessments at pre-treatment (n = 88) and following 12 weeks of treatment (n = 68). Response inhibition and cognitive flexibility were assessed using the Stop Signal Task and Object Alternation Task, respectively. Participants completed the MGH-Hairpulling Scale. Independent evaluators administered the NIMH-Trichotillomania Severity Scale and Clinical Global Impressions-Improvement Scale. Higher pre-treatment TTM severity was associated with poorer pre-treatment cognitive flexibility, but not response inhibition. Better pre-treatment response inhibition performance predicted positive treatment response and lower post-treatment TTM symptom severity, irrespective of treatment assignment. Cognitive flexibility did not predict treatment response. After controlling for age, neither neurocognitive variable changed during treatment. Response inhibition and cognitive flexibility appear uniquely related to hair pulling severity and treatment response in adults with TTM. Implications for treatment delivery and development are discussed.

Rapunzel syndrome in children: a retrospective review of ten cases combined with literature review in a tertiary referral center.

PURPOSE: Rapunzel syndrome is an uncommon condition in children, and its clinical features remain unclear. This study presents the largest single-center series of pediatric cases to date, with the objective of documenting the clinical characteristics and treatment approaches for children with Rapunzel syndrome. METHODS: A retrospective study was conducted in children with Rapunzel syndrome from 2019 to 2023. We recorded age, gender, symptoms, locations of bezoar, complications, and treatment options. RESULTS: Ten patients with Rapunzel syndrome were included. The median age was 9.1 years, with all of whom were female. The most common clinical symptoms were upper abdominal mass (90%), abdominal pain (80%), and nausea and vomiting (50%). Complications occurred in six cases (60%), including small bowel obstruction (20%), severe gastric dilatation (10%), intestinal perforation (10%), choledochodilation (10%), acute pancreatitis with cholecystitis (10%). Preoperative ultrasonography suggested low-echoic foreign bodies continuing to the jejunum or ileocecal region in five cases (50%). Preoperative gastroscopy attempted in four cases (40%) to remove the foreign bodies, all of which failed. All patients underwent surgical treatment, with nine cases undergoing gastric incision foreign body removal, and one case undergoing gastric incision foreign body removal combined with intestinal perforation repair. All patients recovered well. No recurrence was observed during follow-up. CONCLUSION: The accuracy of ultrasound diagnosis in identifying Rapunzel syndrome is high; however, it may lead to misdiagnosis if not complemented with the patient's medical history. Endoscopic presents a heightened treatment risk and a reduced success rate. The condition commonly presents with severe complications, thus making laparotomy a safe and effective option for intervention.

Exploring pharmacological treatment for trichotillomania: do we need better education?

BACKGROUND: Trichotillomania, also known as hair-pulling disorder, is a chronic psychiatric condition with a fluctuating course in which an individual pulls out their hair, leading to visible hair loss and psychosocial sequelae. Due to the unknown pathogenesis, the treatment of this disorder is complex and remains a challenge for dermatologists and psychiatrists. Since guidelines for treating trichotillomania are lacking and, consequently, no common treatment strategy exists, we decided to perform a large-scale, global retrospective cohort study to assess the characterized real-world prescription patterns in treating trichotillomania. METHODS: The research used the TrinetX database for patients with trichotillomania (ICD 10 - F63.3) within the European and the United States Collaborative Network (EC and UC, respectively). After consulting with a psychodermatology expert, a list of 25 medications was investigated. RESULTS: Data on the prescription drugs of 1,275 patients from the EC and 109,741 patients from the UC were collected. In both the EC and UC cohorts, benzodiazepine derivatives, particularly lorazepam and midazolam, were the most commonly prescribed sedatives/hypnotics. Antipsychotic prescriptions, primarily haloperidol, followed benzodiazepines. After the trichotillomania diagnosis, notable changes in drug prescriptions for the EC cohort, including an increased likelihood of receiving acetylcysteine, haloperidol, quetiapine, sertraline, olanzapine, and risperidone were observed. The UC cohort showed minimal changes. Overall, both cohorts leaned toward benzodiazepine prescriptions (37% UC, 21% EC) and had limited antidepressant usage. Haloperidol (19.3%) and quetiapine (15.1%) were commonly prescribed in both cohorts. CONCLUSIONS: The results of our study indicate that the real-world prescription patterns for trichotillomania differ significantly from the expert-proposed therapeutic approach and point toward the necessity of creating standards of pharmacological care and better education.

Non-suicidal self-injury in trichotillomania and skin picking disorder.

BACKGROUND: Trichotillomania and skin picking disorder have been characterized as body-focused repetitive behavior (BFRB) disorders (i.e., repetitive self-grooming behaviors that involve biting, pulling, picking, or scraping one's own hair, skin, lips, cheeks, or nails). Trichotillomania and skin picking disorder have also historically been classified, by some, as types of compulsive self-injury as they involve repetitive hair pulling and skin picking, respectively. The question of the relationship of these disorders to more conventional forms of self-injury such as cutting or self-burning remains incompletely investigated. The objective of this study was to examine the relationship of these two disorders with non-suicidal self-injury (NSSI). METHODS: Adults with trichotillomania (n = 93) and skin picking (n = 105) or both (n = 82) were recruited from the general population using advertisements and online support groups and completed an online survey. Participants completed self-report instruments to characterize clinical profiles and associated characteristics. In addition, each participant completed a mental health history questionnaire. RESULTS: Of the 280 adults with BFRB disorders, 141 (50.1%) reported a history of self-injury independent of hair pulling and skin picking. Participants with a history of self-injury reported significantly worse pulling and picking symptoms (p < .001) and were significantly more likely to have co-occurring alcohol problems (p < .001), borderline personality disorder (p < .001), buying disorder (p < .001), gambling disorder (p < .001), compulsive sex behavior (p < 001), and binge eating disorder (p = .041). CONCLUSIONS: NSSI appears common in trichotillomania and skin picking disorder and may be part of a larger constellation of behaviors associated with impulse control or reward-related dysfunction.

Trichotillomania: A perspective from bibliometric analysis.

Aim: Trichotillomania, an obsessive-compulsive-related disorder, is defined by the recurrent act of pulling out one's own hair from different areas of the body. Despite the considerable body of research dedicated to the subject of trichotillomania, the overarching trends that unify these studies remain obscure. The purpose of the present bibliometric analysis was to ascertain these trends.Method: To achieve this objective, we conducted a thorough search of publications in the Web of Science database and subsequently evaluated the acquired data using VOSviewer software.Results: The most cited article on trichotillomania was written by Simonoff et al. The most prolific writer on trichotillomania is Grant JE. The most publications on the subject of trichotillomania were published in the "Journal of Obsessive Compulsive and Related Disorders" and the most frequently repeated keyword is trichotillomania. Trichotillomania studies have focused on treatment, clinical features, and other accompanying psychiatric conditions.Conclusion: Potential areas of research could include treatment methods in addition to the psychiatric and physical comorbidities of trichotillomania, and efforts to enhance international collaborations in this domain should be intensified.

Síndrome de Rapunzel: atadura sicológica y simulación orgánica / Rapunzel syndrome: psychological bondage and organic simulation

Introducción. El síndrome de Rapunzel es una entidad infrecuente, que se presenta como un tricobezoar a causa de una aglomeración de cabello acumulado dentro del tracto gastrointestinal, por lo que simula otras patologías quirúrgicas. Caso clínico. Paciente femenina de 10 años de edad, con tricotilomanía y tricofagia, dolor abdominal y síntomas inespecíficos de obstrucción intestinal de ocho meses de evolución. Al examen físico se encontró abdomen con distensión y masa palpable en epigastrio y mesogastrio. La ecografía permitió hacer el diagnóstico de tricobezoar gástrico extendido hasta el intestino delgado, por lo que se llevó a cirugía para gastrotomía y se extrajo el tricobezoar, con evolución satisfactoria de la paciente. El abordaje integral permitió conocer la atadura sicológica por posible maltrato infantil. Resultado. La paciente tuvo una evolución satisfactoria y se dio egreso al quinto día de hospitalización. Actualmente se encuentra en seguimiento por sicología, siquiatría infantil y pediatría. Discusión. El caso clínico denota la importancia en reconocer situaciones de presentación infrecuente en pediatría, que puedan estar asociadas a alteraciones sicológicas o presunción de maltrato infantil y que se presenten como una condición orgánica recurrente que simule otras patologías abdominales frecuentes en la infancia. El retraso diagnóstico puede conducir a un desenlace no deseado con complicaciones. Conclusión. Se hace mandatorio el manejo integral del paciente pediátrico y aumentar la sensibilidad para reconocer situaciones de presunción de maltrato infantil, sobre todo en pacientes con una condición orgánica quirúrgica recurrente.

Introduction. Rapunzel syndrome is an uncommon condition that manifests as trichobezoars, which are hair bundles in the stomach or small intestine that can mimics other surgical illnesses. Multiple complications can arise from delayed diagnosis and treatment. Clinical case. A 10-year-old female patient with trichotillomania and trichophagia, with abdominal pain and nonspecific symptoms of intestinal obstruction of eight months of evolution. Physical examination revealed epigastric tenderness and a solid mass was palpable in the mesogastric and epigastric region. An abdominal ultrasound showed gastric trichobezoar that extended into the small intestine. A gastrotomy was performed and the trichobezoar was extracted with satisfactory evolution of the patient. The comprehensive approach allowed knowing the psychological bond due to possible child abuse. Results. The patient had a satisfactory evolution and was discharged on the fifth day of hospitalization. He is currently being monitored by psychology, child psychiatry and pediatrics. Discussion. This clinical case highlights the importance of recognizing situations that seldom present in pediatrics, which may have a psychological aspect due to the presumption of child abuse, and which present as a recurrent organic condition simulating other frequent abdominal pathologies in childhood; all of which may lead to an unwanted outcome due to diagnostic delay. Conclusion. The comprehensive management of the pediatric patient is mandatory to recognize situations of presumed child abuse, in the face of a recurrent surgical conditions.

Predicting response to and relapse after treatment of trichotillomania with the Comprehensive Behavioral model (ComB).

Prior studies of behavior therapy for trichotillomania (TTM) have shown that response is variable, and relapse after treatment discontinuation is common. Little information is available concerning prognostic factors capable of predicting individual differences in response or maintenance of improvement. The present study is a secondary analysis of a randomized controlled trial (N = 36) of the Comprehensive Behavioral (ComB) model of treatment for TTM (Carlson et al., 2021). We investigated age, disorder history, pre-treatment symptom severity, longest prior period of abstinence from pulling, and Emotion and Intention hair pulling styles as predictors of initial response. We studied age, disorder history, pre-treatment symptom severity, longest prior period of abstinence from pulling, and post-treatment symptom severity or hair-pulling abstinence as predictors of relapse following treatment. Older age significantly predicted lower TTM severity following treatment. Lower pre-treatment severity significantly predicted lower severity of TTM at the 3-month follow-up.

Trichotillomania, Trichophagia and Trichobezoar in a Male Paediatric Patient: A Case Report and Literature Review.

INTRODUCTION AND IMPORTANCE: Trichotillomania and tricophagia, characterized by compulsive hair-pulling and subsequent ingestion which results in a compact mass of hair called trichobezoar. It represents an uncommon psychiatric disorder, especially in young children. CASE PRESENTATION: This case report describes a distinctive and rare occurrence of trichotillomania, tricophagia and trichobezoar in a 11-year-old male child. Concerns raised by the parents regarding noticeable hair loss, who initially presented to medical outdoor patient with complaints of abdominal pain on and off from the last one year. He had a history of pica and weight-loss. He was then diagnosed with a gastric trichobezoar for which he was operated upon and a giant trichobezoar was retrieved from his stomach. Post-operatively patient remained admitted in ward and was discharged home on fifth post-operative day and sent for psychiatry evaluation. CLINICAL DISCUSSION: Trichotillomania and tricophagia often have roots in psychosocial stressors, anxiety, and depression. Children may engage in hair-pulling as a coping mechanism, especially in response to familial or environmental stressors. The literature emphasizes the importance of understanding the psychosocial context to tailor interventions effectively. CONCLUSION: Trichotillomania and tricophagia is very rare in paediatric population and if presents a multidisciplinary team comprising of a paediatrition, paediatric surgeon and paediatric psychiatrist should be involved and if diagnosed with a gastric trichobezoar should be removed surgically in order to prevent complications.

Cognition in trichotillomania: a meta-analysis.

OBJECTIVE: Trichotillomania (TTM) is a mental health disorder characterized by repetitive urges to pull out one's hair. Cognitive deficits have been reported in people with TTM compared to controls; however, the current literature is sparse and inconclusive about affected domains. We aimed to synthesize research on cognitive functioning in TTM and investigate which cognitive domains are impaired. METHODS: After preregistration on the International Prospective Register of Systematic Reviews (PROSPERO), we conducted a comprehensive literature search for papers examining cognition in people with TTM versus controls using validated tests. A total of 793 papers were screened using preestablished inclusion/exclusion criteria, yielding 15 eligible studies. Random-effects meta-analysis was conducted for 12 cognitive domains. RESULTS: Meta-analysis demonstrated significant deficits in motor inhibition and extradimensional (ED) shifting in people with TTM versus controls as measured by the stop-signal task (SST) (Hedge's g = 0.45, [CI: 0.14, 0.75], p = .004) and ED set-shift task (g = 0.38, [CI: 0.13, 0.62], p = .003), respectively. There were no significant between-group differences in the other cognitive domains tested: verbal learning, intradimensional (ID) shifting, road map spatial ability, pattern recognition, nonverbal memory, executive planning, spatial span length, Stroop inhibition, Wisconsin card sorting, and visuospatial functioning. Findings were not significantly moderated by study quality scores. CONCLUSIONS: Motor inhibition and ED set-shifting appear impaired in TTM. However, a cautious interpretation of results is necessary as samples were relatively small and frequently included comorbidities. Treatment interventions seeking to improve inhibitory control and cognitive flexibility merit exploration for TTM.

Body-Focused Repetitive Behavior Disorders in Children and Adolescents: Clinical Characteristics and Treatment Outcomes in a Naturalistic Setting.

Body-focused repetitive behavior disorders, including trichotillomania (hair-pulling disorder) and excoriation (skin picking) disorder, typically emerge in early adolescence, but little is known about the clinical characteristics and treatment outcomes of these disorders in young people, particularly in real-world clinical settings. Participants were 63 children and adolescents (51 girls; age range 9-17) with a diagnosis of trichotillomania (n = 33) and/or skin-picking disorder (n = 33) attending a specialist outpatient clinic in Stockholm, Sweden. Demographic and clinical characteristics were gathered at the initial assessment. Of the 63 assessed youths, 56 received manual-based behavior therapy mainly focusing on habit reversal training, which was combined with medication when deemed appropriate. The mean clinician-reported trichotillomania and skin-picking disorder symptom severity at baseline (n = 63) was in the moderate range. We observed high rates of psychiatric comorbidity (63.5%) and use of psychiatric medication (54.8%). For the 56 individuals undertaking treatment at the clinic, mixed-effects regression models showed a significant decrease in symptom severity from baseline to posttreatment, with gains maintained up to the 12-month follow-up. Substantial and durable improvements were also seen on self-reported symptoms, self-reported depression, and global functioning. Specialist care should be made more widely available to improve the prognosis and quality of life of young people with trichotillomania and skin-picking disorder.

Impulsivity in adolescent girls diagnosed with trichotillomania: an evaluation of clinical and neuropsychological characteristics.

The aim of this study is to compare the clinical and neuropsychological features of impulsivity in adolescent girls with trichotillomania (TTM) and healthy controls, and to assess the relationships between the severity of TTM and the impulsivity/concomitant symptoms of anxiety and depression. The study sample consisted of 43 adolescent girls who were 12 to 18 years old. The Kiddie-Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version DSM-5 (K-SADS-PL) was administered to the adolescents and their parents. All of the participants completed a sociodemographic data form, the Revised Children's Anxiety and Depression Scale-Child Version (RCADS-CV), the Barratt Impulsiveness Scale-Brief (BIS-Brief), and the Massachusetts General Hospital Hairpulling Scale (MGH-HPS). The Eriksen Flanker task, the Stop Signal Reaction Time (SSRT) task, the Go/No-Go task, and the Balloon Analog Risk Task (BART) were used to assess behavioral impulsivity. The adolescents with TTM reported higher levels of impulsivity and anxiety/depression symptoms than the healthy controls, and they also performed worse on the behavioral tasks. While there were no relationships between clinical and behavioral impulsivity and TTM severity, social anxiety symptoms were the most important predictor of the severity of TTM. It seems important to better understand the role of impulsivity in the onset and persistence of TTM symptoms in adolescents.

Safety and Efficacy of an Intensified and Repeated Transcranial Direct Current Stimulation Targeting Supplementary Motor Area and Dorsolateral Prefrontal Cortex in Trichotillomania (Hair Pulling Disorder): A Case Report.

Trichotillomania (or hair pulling disorder) is a habitual condition in which patients constantly pull their hair. Although psychotherapies such as behavioral therapy and pharmacotherapy have shown relative effectiveness for trichotillomania, some patients fail to respond to these interventions or show only partial responses. Recently, noninvasive brain stimulation techniques such as transcranial direct current stimulation have shown promise in the treatment of psychiatric disorders. We designed a new protocol that included intensified and repeated during 16 sessions, every other day, 2 sessions one day, current intensity of 2 mA for 20 minutes, which regions dorsolateral prefrontal cortex (DLPFC) and supplementary motor area (SMA): Anodal (F3) and cathodal (SMA) were selected as stimulation target areas. The results showed that after the electrical stimulation intervention and also in the follow-up phase, there was a significant improvement in hair pulling behavior and psychiatric evaluations such as depression and anxiety. Therefore, there are many hopes in the effectiveness of the protocol used (intensified and repeated DLPFC and SMA areas) in the treatment of trichotillomania disorder, although there is a need for a future experimental study with a larger group of patients.

Trichobezoar Found Accidently while Diagnosing Resistance to Thyroid Hormone.

Introduction: Bezoars are masses of indigestible foreign material in the gastrointestinal tract, usually in the stomach. These materials could be indigestible fruits, hair, milk products, or tablets. In children, the most common type of bezoar is trichobezoar (formed from hair). Case Presentation: We describe a female patient who has been complaining about deterioration of mood, collapse without losing consciousness, scotomas, and cardiac arrhythmia for 2 years. Based on the results of thyroid hormone, resistance to thyroid hormone (RTH) was suspected. Physical examination during hospitalization revealed a palpable upper abdominal mass. Several diagnostic examinations were performed. The abdominal ultrasound showed acoustic shadowing caused by a pathological structure in the upper abdomen. Therefore, the contrast X-ray of the digestive tract revealed a deficit of contrast with an irregular shape in the stomach body and the pylorus region. Due to these results, a gastroscopy was performed, which revealed a large trichobezoar of the stomach. The trichobezoar was surgically removed without complications. Conclusion: The case presented shows that these nonspecific symptoms and laboratory test suggesting RTH require multi-path diagnostics and the cooperation of many specialists, ultimately giving a surprising diagnosis. It is crucial to interpret diagnostic examinations with regard to the patient's physical condition. Diagnosis of trichobezoar requires a detailed search of causes to avoid another incident.

Topiramate use in a pediatric patient with comorbid bipolar disorder and trichotillomania: A 3-year follow-up.

Trichotillomania (TTM) is an intractable and chronic mental disorder that causes significant distress or functional impairments in various life domains. Most individuals with trichotillomania have other comorbid diagnoses. Bipolar disorder (BD) is one of the most common comorbid conditions. Up to date, no FDA-approved drugs for TTM are available, not to mention children and adolescent patients with TTM and BD. Here, we present a case of an 8-year-old child with a long history of episodic TTM and bipolar disorder who was effectively treated with topiramate in a 3-year follow-up.

A case of Rapunzel syndrome.

Rapunzel syndrome is a rare disorder characterized by a trichobezoar in the gastroduodenal tract caused by trichophagia. Diagnosis was confirmed by upper endoscopy and treatment was surgical.

Disorders of impulsivity in trichotillomania and skin picking disorder.

Trichotillomania and skin picking disorder are often classified as body-focused repetitive behaviors (BFRBs) as they are characterized by repetitive hair-pulling and skin picking, respectively. They were initially considered to be impulse control disorders despite little research scrutiny. The objective of this study was to examine the relationship of these two conditions to other disorders with impulsive features. Adults with trichotillomania (n = 104) and skin picking (n = 178) or both (n = 96) were recruited from the general community using advertisements and online support groups and completed an online survey. Participants undertook a structured clinical interview and completion of self-report instruments to characterize clinical profiles and associated characteristics. In addition, each participant completed the Minnesota Impulse Disorders Interview to screen for disorders with impulsive features. Of the 378 adults with BFRBs, 134 (35.4%) screened positive for at least one disorder with features of impulsivity with the most common being compulsive buying (18.3%) and problematic use of the internet (17.5%). Participants with a co-occurring disorder of impulsivity reported significantly worse pulling and picking symptoms (p < .001), were more likely to have co-occurring alcohol problems (p < .001) and PTSD (p < .001), and scored higher regarding dissociative symptoms (p < .001). BFRBs are associated with a range of impulsive disorders and the comorbidity may have important treatment implications.