Self-mutilating Behavior Research Articles

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients.

Mutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant feeding difficulties, gait abnormalities and distinctive facial features. The objective of this study is to investigate the genetic factors that may contribute to the development of Skraban-Deardorff syndrome in affected individuals. In this study, we used whole-exome sequencing (WES) to analyze pathogenic and likely pathogenic variants in two unrelated Chinese patients with DD and ID. We confirmed the origin of the variants by conducting Sanger sequencing and classified them according to ACMG/AMP guidelines. Here, two novel de novo variants (c.1797delC(p.His599fs*11) and c.1414C>T(p.Gln472*)) in the WDR26 gene have been identified in two Chinese patients with Skraban-Deardorff syndrome. These patients exhibit a range of symptoms, including varying degrees of ID, DD, speech delay, an abnormal wide-foot and/or stiff-legged gait, facial dysmorphism, behavioural abnormalities, with or without seizures. In this study, We report two unrelated Chinese patients with Skraban-Deardorff syndrome caused by novel de novo pathogenic variants of the WDR26 gene. These patients showed a clinical phenotype similar to that of patients with the WDR26 variant. Compared to reported cases with WDR26 pathogenic variants, patient 2 presented a novel complication of severe behavioural problems, including hyperactivity, social anxiety, self-mutilation, impulsivity and violent behaviour. This research broadens the range of genetic and clinical features of Skraban-Deardorff syndrome. In addition, the symptoms may become more pronounced as the patient ages. Furthermore, our report highlights the clinical diversity of Skraban-Deardorff syndrome. The findings may assist healthcare professionals in providing more accurate genetic testing and counselling to affected families and improving the overall management of the condition.

Adaptation and Validation of the Meteoropathy Questionnaire to the Turkish Sample

The present study aimed to adapt and evaluate the psychometric properties of the Meteoropathy Scale (METEO-Q) for the Turkish population. Furthermore, it aims to suppress some limitations of the original study by examining construct validity and test-retest reliability, and associations between certain variables. A total of 603 participants (M=34,92, SD=13,57) were recruited. METEO-Q, Seasonal Pattern Assessment Questionnaire (SPAQ), and sociodemographic form were utilized to collect data. To test the construct validity, exploratory factor analysis and confirmatory factor analysis were carried out. The exploratory factor analysis result pointed out the presence of a two-factor structure. Two-factor structure exhibited a reasonable model fit in the confirmatory factor analysis. The two factors (meteorosensitivity and meteoropathy), structured checklist and, total score of METEO-Q indicated good reliability (α = .86, .88, .95, .93, respectively). Test-retest reliability scores demonstrated good reliability. The METEO-Q score was positively associated with SPAQ, gender, self-mutilation, and suicidal behaviors. In conclusion, the Turkish version of METEO-Q provides a valid and reliable measurement tool for the general population.

Self-mutilating behavior in a 2-year-old girl unveiling the diagnosis of a rare entity – Midface toddler excoriation syndrome

ABSTRACT Midface toddler excoriation syndrome (MiTES) is a less severe form of hereditary sensory-autonomic neuropathy Type VIII characterised by self-inflicted excoriations. This condition frequently affects toddlers, who may exhibit very high levels of pain tolerance. A 2-year-old girl presented with itchy lesions on the face of 6 months duration. The diagnosis of MiTES was established by ruling out other differential diagnoses based on history and clinical examination. This case emphasizes the need for early recognition of this entity.

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

Congenital insensitivity to pain with anhidrosis (CIPA, OMIM #256800), also known as hereditary sensory and autonomic neuropathy type Ⅳ (HSAN-IV), is a rare autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis, insensitivity to noxious stimuli, self-mutilating behavior and intellectual disability. CIPA can be caused by the variants in NTRK1 gene, which encodes a high-affinity tyrosine kinase receptor for nerve growth factor. To ascertain the hereditary cause of a patient with CIPA accompanied by the additional symptoms of mild growth retardation, prone to fracture, underdeveloped nails of fingers and toes, irregular tooth alignment, enamel hypoplasia, postoperative wound healing difficulty, hand and limb deformity, and dislocation of hip joint, whole exome sequencing was used and revealed a compound heterozygous variant in NTRK1. DNA was extracted from peripheral blood samples of pediatric patients and their parents, and subjected to comprehensive analysis using whole-exome sequencing (WES), followed by verification of variant sites in the NTRK1 gene through Sanger sequencing. To elucidate the functional impact of the newly discovered variants, an in vitro experimental system was established. Splicing analysis was conducted using PCR and Sanger sequencing, while expression levels were assessed through qPCR and Western blot techniques. One hotspot variant c.851-33T>A(ClinVar ID: 21308) and a novel variant c.850 + 5G>A(ClinVar ID:3069176) was inherited from her father and mother, respectively, identified in the affected individuals. The c.850 + 5G>A variant in NTRK1 resulted in two forms of aberrant mRNA splicing: 13bp deletion (c.838_850del13, p. Val280Ser fs180) and 25bp deletion (826_850del25, p. Val276Ser fs180) in exon 7, both leading to a translational termination at a premature stop codon and forming a C-terminal truncated protein. The expression of two abnormal splicing isoforms was decreased both in the level of mRNA and protein. In conclusion, this study elucidated the genetic cause of a patient with CIPA and identified a novel variant c.850 + 5G>A in NTRK1, which broadened the and enriched the NTRK1 mutation spectrum.

Mesenchymal Stem Cell Engagement Modulates Neuroma Microenviroment in Rats and Humans and Prevents Postamputation Pain

Postamputation pain is currently managed unsatisfactorily with neuron-targeted pharmacological and interventional therapies. Non-neuronal pain mechanisms have emerged as crucial factors in the development and persistence of postamputation pain. Consequently, these mechanisms offer exciting prospects as innovative therapeutic targets. We examined the hypothesis that engaging mesenchymal stem cells (MSCs) would foster local neuroimmune interactions, leading to a potential reduction in postamputation pain. We utilized an ex vivo neuroma model from a phantom limb pain patient to uncover that the oligodeoxynucleotide IMT504 engaged human primary MSCs to promote an anti-inflammatory microenvironment. Reverse translation experiments recapitulated these effects. Thus, in an in vivo rat model, IMT504 exhibited strong efficacy in preventing autotomy (self-mutilation) behaviors. This effect was linked to a substantial accumulation of MSCs in the neuroma and associated dorsal root ganglia and the establishment of an anti-inflammatory phenotype in these compartments. Centrally, this intervention reduced glial reactivity in the dorsal horn spinal cord, demonstrating diminished nociceptive activity. Accordingly, the exogenous systemic administration of MSCs phenocopied the behavioral effects of IMT504. Our findings underscore the mechanistic relevance of MSCs and the translational therapeutic potential of IMT504 to engage non-neuronal cells for the prevention of postamputation pain. PerspectiveThe present study suggests that IMT504-dependent recruitment of endogenous MSCs within severely injured nerves may prevent post-amputation pain by modifying the inflammatory scenario at relevant sites in the pain pathway. Reinforcing data in rat and human tissues supports the potential therapeutic value of IMT504 in patients suffering postamputation pain.

Borderline personality disorder: a comprehensive review of diagnosis and clinical presentation, etiology, treatment, and currentcontroversies.

Borderline personality disorder (BPD) was introduced in the DSM-III in 1980. From the DSM-III to the DSM-5, no major changes have occurred in its defining criteria. The disorder is characterized by instability of self-image, interpersonal relationships and affects. Further symptoms include impulsivity, intense anger, feelings of emptiness, strong abandonment fears, suicidal or self-mutilation behavior, and transient stress-related paranoid ideation or severe dissociative symptoms. There is evidence that BPD can be reliably diagnosed and differentiated from other mental disorders by semi-structured interviews. The disorder is associated with considerable functional impairment, intensive treatment utilization, and high societal costs. The risk of self-mutilation and suicide is high. In the general adult population, the lifetime prevalence of BPD has been reported to be from 0.7 to 2.7%, while its prevalence is about 12% in outpatient and 22% in inpatient psychiatric services. BPD is significantly associated with other mental disorders, including depressive disorders, substance use disorders, post-traumatic stress disorder, attention-deficit/hyperactivity disorder, bipolar disorder, bulimia nervosa, and other personality disorders. There is convincing evidence to suggest that the interaction between genetic factors and adverse childhood experiences plays a central role in the etiology of BPD. In spite of considerable research, the neurobiological underpinnings of the disorder remain to be clarified. Psychotherapy is the treatment of choice for BPD. Various approaches have been empirically supported in randomized controlled trials, including dialectical behavior therapy, mentalization-based therapy, transference-focused therapy, and schema therapy. No approach has proved to be superior to others. Compared to treatment as usual, psychotherapy has proved to be more efficacious, with effect sizes between 0.50 and 0.65 with regard to core BPD symptom severity. However, almost half of the patients do not respond sufficiently to psychotherapy, and further research in this area is warranted. It is not clear whether some patients may benefit more from one psychotherapeutic approach than from others. No evidence is available consistently showing that any psychoactive medication is efficacious for the core features of BPD. For discrete and severe comorbid anxiety or depressive symptoms or psychotic-like features, pharmacotherapy may be useful. Early diagnosis and treatment of BPD can reduce individual suffering and societal costs. However, more high-quality studies are required, in both adolescents and adults. This review provides a comprehensive update of the BPD diagnosis and clinical characterization, risk factors, neurobiology, cognition, and management. It also discusses the current controversies concerning the disorder, and highlights the areas in which further research is needed.

Risk Factors for Multiple Suicide Attempts in Adolescents From 10 Years Suicide Repository.

While there are many studies on adolescents' suicide attempts in the western countries, studies on adolescent suicide in South Korea are relatively scarce. We compared demographical and clinical variables between the first and multiple suicide attempters and examined potential risk factors predicting multiple suicide attempts. Two hundred forty-eight suicide attempters aged from 11 to 19 years old who visited emergency department of Uijeongbu St. Mary's Hospital, South Korea were recruited and divided into two groups: first attempter (n = 139, 56%) and multiple attempter (n = 109, 44%). A psychiatric interview with the Brief Emergency Room Suicide Risk Assessment were administered to all participants, and univariate analyses to compare characteristics of the two group and a multivariable logistic regression analysis to predict multiple suicidal attempts were performed. Our results showed multiple suicide attempters were mostly female (78%), more severe in psychopathology (e.g., higher rate of psychiatric family history, diagnosis of axis I history, history of major depressive disorder, higher feeling of hopelessness/helplessness) and suicidality (e.g., repetitive/severe/continuous suicide ideation, lower regret for suicide attempt). Moreover, multiple suicide attempters were lower in psychiatric resources, such as lower personal achievement, lower ability to control emotion, and less insight. Multivariate logistic regression analysis showed that suicide ideation severity (odds ratio [OR], 2.30; P = 0.004), past history of axis I diagnosis (especially major depressive disorder; OR, 2.55; P = 0.002), and the use of "cutting" (OR, 2.85; P = 0.001) predicted multiple suicide attempts. The present study suggests that multiple suicide attempters tend to have more severe clinical profiles than the first suicide attempters. Intervention for depression and self-mutilation behavior of suicide attempters may be important in preventing multiple suicide attempts of adolescents.

Evaluation of Asymmetric Dimethylarginine, Malondialdehyde, and Vitamin Levels of Borderline Personality Disorder Patients With and Without Self-Mutilation.

Believing that oxidative stress may be increased in borderline personality disorder (BPD) patients with self-mutilating behaviors (SMB), we aimed to measure serum asymmetric dimethylarginine (ADMA) and malondialdehyde (MDA) levels in these patients. The study included 60 patients diagnosed with BPD and 30 healthy controls. BPD patients were divided into two groups: 30 female patients with SMB and 30 female patients with no-self-mutilating behavior (NSMB). ADMA, MDA, vitamin A, and vitamin E levels were analyzed. Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI) were conducted with the participants. Serum ADMA and MDA levels were higher in SMB and NSMB group compared to control group. Serum vitamin E levels were also lower in the SMB group compared to the control group. Positive correlations were determined between both ADMA and MDA, and between BDI and BAI scores. Also, BAI scores were statistically higher in SMB group compared to NSMB group. It was discovered that levels of ADMA and MDA, which reflected oxidative stress, were elevated in patients with BPD who exhibited SMB. Accordingly, future studies should investigate the role of oxidative stress in a more comprehensive way in terms of the different mechanisms underlying and treatments involved in borderline personality disorder.

The effectiveness of psychological interventions for borderline personality disorder for those who misuse substances: a systematic review and narrative synthesis

Purpose This study aims to identify and critically appraise literature exploring the effectiveness of psychological interventions in improving borderline personality disorder (BPD) symptomatology for individuals who misuse substances. Design/methodology/approach Systematic searches across six databases (PsycINFO, Embase, Scopus, Medline, CINAHL and ProQuest), hand searching and citation chaining were conducted between June and August 2021. Key search terms included BPD, substance use, therapy and effect. Study and sample characteristics, interventions, outcome measures and key findings were extracted. Quality assessment and a narrative synthesis approach were used to explore strengths, limitations and relationships between and within studies. Findings Seven eligible reports were included and showed mostly adequate quality. Mixed samples, designs, outcomes, definitions and implementation varied. Treatment completion did not differ significantly between those who did and did not misuse substances. Interventions demonstrated effectiveness in relation to psychiatric symptoms, hospital admissions, self-efficacy and impulsive and self-mutilating (cutting, burning, etc.) behaviours. No effects were found for suicidal or parasuicidal (threats, preparation and attempts) behaviours. Research limitations/implications This review only considers individuals with diagnoses of BPD who are not accessing substance misuse treatment. Radically open dialectical behaviour therapy (DBT), therapeutic communities and other interventions are available as interventions for substance misuse (Beaulieu et al., 2021). Based on the findings of this review, it should not be assumed that such interventions affect substance misuse rather than BPD symptomatology. Therefore, future research might explore the effectiveness of these interventions on BPD symptomatology despite this not being the primary target for intervention. Practical implications Despite McCrone et al. (2008) noting the cost of this population’s difficulties to both themselves and services, the limited number of studies in this area is astonishing. Despite a lack of quality in the data available, there i some evidence to support the use of DBT and general psychiatric management (GPM) interventions for those with BPD and concurrent substance misuse. It is therefore of principal importance that health and social care services action Public Health England’s (2017) recommendations. Individuals with coexisting BPD and substance misuse would then receive support from any professional they see, who could then refer for psychological therapies. Originality/value Although the reports appear to show that DBT, integrated therapies and GPM may be effective for this population, conclusions cannot be drawn with high levels of confidence due to heterogeneity among studies. The findings indicate that future, high-quality research is needed to test the effects of interventions on BPD symptomatology for those who misuse substances. Randomised controlled trials with sufficient statistical power, homogeneous outcomes and standardised methodological approaches are needed.

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review.

Background: PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known. Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 mutation were collected. A literature review was performed, and the clinical characteristics of 20 cases diagnosed with a mutation of PRDM12 were summarized and analyzed. Results: Two patients had pain insensitivity, tongue and lip defects, and corneal ulcers. The genomic analysis results showed that variants of PRDM12 were detected in the two families. The case 1 patient carried heterozygous variations of c.682+1G > A and c.502C > T (p.R168C), which were inherited from her father and mother, respectively. We enrolled 22 patients diagnosed with CIP through a literature review together with our cases. There were 16 male (72.7%) and 6 female (27.3%) patients. The age of onset ranged from 6 months to 57years. The prevalence of clinic manifestation was 14 cases with insensitivity to pain (63.6%), 19 cases with self-mutilation behaviors (86.4%), 11 cases with tongue and lip defects (50%), 5 cases with mid-facial lesions (22.7%), 6 cases with distal phalanx injury (27.3%), 11 cases of recurrent infection (50%), 3 cases (13.6%) with anhidrosis, and 5 cases (22.7%) with global developmental delay. The prevalence of ocular symptoms was 11 cases (50%) with reduced tear secretion, 6 cases (27.3%) with decreased corneal sensitivity, 7 cases (31.8%) with disappeared corneal reflexes, 5.5 cases (25%, 0.5 indicated a single eye) with corneal opacity, 5 cases (22.7%) with corneal ulceration, and 1 case (4.5%) with a corneal scar. Conclusion: The syndrome caused by PRDM12 mutation is a clinically distinct and diagnosable disease that requires joint multidisciplinary management to control the development of the disease and minimize the occurrence of complications.

Cognitive Behavior Therapy for Anger and Aggression

Aggression is an emerging psychological issue in society. Adolescents and aggression are crucial and ardent issues of the current scenario and steps need to be taken to reduce violence among youth. Exposure to media, gadgets, chaotic family environment, and locality can precipitate the aggressive behavior of an individual to a great extent. The rise of conflict with parents is increasing nowadays even though it is regarded as normal during teens. Adolescents generally have an identity crisis, are often temperamental, venture into risky behavior, seek more independence, and love to be in the company of friends rather than family. Aggression is an act of hurting or harming others by direct means such as hitting, kicking, punching, biting, and indirect means like backbiting, rejection, social isolation, telling rumors, using bad words, threatening others. Anger has always been associated with a multitude of problems such as substance abuse, emotional and physical abuse, domestic violence, psychological disturbances like poor concentration, sleeplessness, insecure feeling, and self-mutilative behavior. Cognitive behavioral therapy is a therapeutic intervention that helps in identifying maladaptive cognitive schemas that leads to negative emotions and behaviors. It aids in resolving behavioral problems of adolescents and youths. It inculcates instruction, coaching, and strengthening positive human behaviors and certain intervention strategies such as social skill training, moral reasoning training, and anger management. Cognitive behavioral therapy is a kind of umbrella that covers all kinds of behavioral intervention strategies in psychology

The Causes and Effects of Post-traumatic Stress Disorder

After a particularly traumatic occurrence that leaves the patient with profound mental anguish and long-lasting negative effects, post-traumatic stress disorder (PTSD) typically develops. Therefore, determining the precise causes of PTSD and how it affects patients is of tremendous practical importance as well as scientific research value. This paper aims to analyze the possible factors that lead to PTSD disease and discuss the impact on the patient himself after suffering from PTSD. The results reveal that major negative events, natural and man-made disasters, physical injuries, and psychological harm are the main reasons for people to develop PTSD. PTSD has the possibility of increasing people’s criminal tendency, which will bring self-mutilation and other self-harming behaviors to patients. Additionally, it is often accompanied by many psychological and physical complications during the onset of the disease, which further damage the patient’s health. The paper provides insight into the prevention and intervention of PTSD.

Obsessive-Compulsive Tendencies among Students with Autism Spectrum Disorder and Their Classroom Management

This study was descriptive in nature and used the sequential explanatory mixed method research design. The objectives of the study were to investigate the obsessive-compulsive tendencies among students with ASD, highlight the differences in obsessive-compulsive tendencies based on their demographic characteristics, explores the classroom management strategies used by teachers of students with ASD who have obsessive and compulsive tendencies, explore the classroom management strategies used by teachers of students with ASD. The sample of the study was 200 special education teachers and psychologists. The sample was selected using a purposive sampling technique. Data was collected by using a self-developed questionnaire. The researcher also conducted ten interviews with teachers to know about the management strategies they use in the class. After collecting the data, quantitative data were analyzed by using SPSS and for qualitative, thematic analysis was used. The findings of the study revealed that the most common obsessive tendencies in students with ASD are hoarding, repetition of purposeless actions, and ordering things. The common compulsive tendencies were ritualized hand washing, excessive showering, cleaning of items, checking things, self-damaging or self-mutilating behaviors, and checking associated with getting washed, dressed, or undressed. Their management strategies include a controlled environment, task analysis, reinforcement, sensory activities, outdoor activities, token economy and individualized sessions. Future research can conduct the study to explore this phenomenon in-depth and devise some teaching techniques to manage such children in the classroom successfully and improve their obsessive and compulsive tendencies.

Anhidrozisli Konjenital Ağrıya Duyarsızlık Sendromu: Bir Olgu Sunumu

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder that is characterized by insensitivity to pain, anhidrosis and mental retardation. Mutations in the neurotrophic tyrosine receptor kinase 1 gene are responsible for the disorder. A 3.5-year-old male born to healthy consanguineous Iranian parents presented with such symptoms as insensitivity to pain, anhidrosis, self-mutilation and intellectual disability. At the time of presentation he had multiple scars, especially on his hands, feet and knees resulting from previous trauma. It was ascertained that the wounds, caused by trauma and the self-mutilating behaviors of the patient, did not heal easily. CIPA was diagnosed based on clinical findings and information obtained from the family. Wound care was performed and the patient was started on a support program for cognitive function. In the absence of a cure for the condition, the family was informed about the measures to be taken and provided with genetic counseling, and the patient was followed up. The characteristics of the disorder should be well known to ensure its inclusion in differential diagnosis. As there is as yet no cure for this condition, the family of the patient should be informed about the disease and the measures to be taken, and provided with genetic counseling.

In the depth of psychic ignorance: Self-mutilation in the alleviation of suffering—A case report

Introduction: In several cultures—primitive, modern, and contemporary—the body represents an object of communication. According to the definition of the Descriptors in Health Science, self-mutilation is the “act of damaging one’s own body until permanent destruction of a limb or other essential body region is achieved.” Self-mutilation is a kind of agreement to avoid total annihilation of the person, in other words, suicide. In this perspective, it represents a victory, sometimes a pyrrhic victory, of the life drive over the death drive, where a dichotomous relationship is assumed. Case Report: An 18-year-old, female, student, smoker, alcoholic, refers that she doesn’t use illicit drugs. She reports that months before her mother’s death she started self-mutilating behaviors on her arm, forearm, and thigh. When asked about the reasons that drove her to practice physical injuries on her own body, the patient verbalized: “I feel relief when I provoke another pain different from the one I feel internally.” She adds: “I don’t feel panic when I see blood running down my arm”; “today I am no longer able to cry, so I feel the need to inflict self-injury.” She affirms that at the moment before the mutilation acts, she is balanced, and there are no triggering factors for the injuries. Conclusion: The undeniable psychic precariousness makes this “private” self-mutilation show, in the recourse to the act-pain, the conceivable damage truly experienced by the subject. In this dimension of absence or emptiness and when facing the act of self-mutilation, the physician is called to exercise not to capture the look of the mutilated body, but to resort to the artifices of a clinic whose ethics is based on listening to a subject trapped in the repetition of the same.

Schizophrenia with obsessive-compulsive suicidal images

IntroductionBackground A 19-year old patient with a history of traumatic childhood events presents herself for suicidal behavior driven by complex auditory hallucinations, self-mutilating behavior, and obsessive-compulsive suicidal images that depicted the patient lying dead on the floor with both wrists cut open. Prior to hospitalization, over the past 10 months, the patient exhibited symptoms of low mood, anhedonia, and an overall decline in school performance which led to a diagnosis of MDD with psychotic symptoms, but treatment with Duloxetine 60mg and Olanzapine 10mg proved to be inefficient.ObjectivesCase Presentation Upon admission the patient’s mimic and behavior did not support the described sadness, she presented a circumstantial discourse with frequent thought blockages and delusions. Associated the patient also described hypervigilance and avoidance behavior towards men, flashbacks, vivid nightmares, and obsessive-compulsive self-mutilating impulses and images.MethodsInitially, treatment was started with Olanzapine 20mg, which was augmented two months later with Sertraline 50mg and Bromazepam 3mg. This treatment led to an incomplete resolution of the obsessive symptoms, which led to the increase of Sertraline at 100mg, but at her 1-month check-up evaluation, she presented increased suicidal ideation and daily obsessive-compulsive images.ResultsThe patient was lastly diagnosed with schizophrenia, and due to the persistence of the suicidal ideations and delusions and the obsessive-compulsive symptoms, the treatment plan was revised.Conclusions Improvement of symptoms appeared under treatment with 300mg Clozapine and 50mg Fluvoxamine. In total the patient needed 98 days of hospitalization and lasting remission of symptoms appeared only under treatment with Clozapine and Fluvoxamine.DisclosureNo significant relationships.

Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.

Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic movement disorder, and compulsive self-mutilation. The purpose of the present study was to characterize the genetic basis of LND and describe its phenotypic heterogeneity by identifying the variation in the HPRT1 gene in a cohort of Chinese LND patients. Results: The median age at diagnosis was 31 mo (interquartile range (IQR): 7–76 mo), and the initial manifestations were mainly head control weakness and motor development delay. The median age of self-mutilation behavior onset was 19 mo (IQR: 17–24 mo), and all patients were required to travel in a wheelchair and fall into the predicament of compulsive self-harm behavior. There were two patients whose blood uric acid levels were normal for their high urinary acid excretion fraction without taking uric acid-lowering drugs. Seven different pathogenic variants of the HPRT1 gene were identified among eight independent pedigrees, including four novel mutations [c.299 (exon 3) T > A; loss (exon: 6) 84 bp; c.277_281delATTGC; c.468_470delGAT]. The pathogenic variant sites were mainly concentrated in exon 3, and truncating mutations (including frameshift mutations and nonsense mutations) were the most common genetic variant types (5/7, 71.4%). Conclusion: The present study described the phenotypic and molecular spectrum of LND in eight Chinese families, including four novel mutations, which expands our understanding of LND.

Alexithymia, reading the mind in the eyes and empathy in patients with antisocial personality disorder

ObjectivesThis study was undertaken to compare subjects diagnosed with Antisocial Personality Disorder (ASPD) and healthy controls in terms of alexithymia, empathy and theory of mind. Material and methodsA total of 43 patients diagnosed with ASPD and 43 healthy controls were included. Study tools administered include the Sociodemographic Data Form, Barratt Impulsivity Scale - Version 11 (BIS-11), Reading the Mind in the Eyes Test (RMET), Empathy Quotient (EQ), Toronto Alexithymia Scale (TAS-20) and Beck Depression Inventory (BDI). ResultsAs compared to controls, patients had significantly lower RMET and total EQ scores (p<0.001) and significantly higher BIS total and planning, motor and attention, TAS-20 total, identifying feelings, describing feelings, and externally oriented thinking scores (p= 0.002; p=0.008; p <0.001; p<0.001; p<0.001; p<0.001; p<0.001; and p=0.017, respectively). There was a positive significant correlation between RMET and EQ scores (p=0.006, r=0.415), while EQ scores were negatively and significantly correlated with TAS-20 scores (p=0.001, r= -0.487). There was a significant negative correlation between EQ and BIS-11 scores (p< 0.001, r= -0.609), while a positive and significant correlation was identified between TAS-20 and BIS-11 scores (p=0.012, r=0.379). Patients with self-mutilating behaviors had significantly lower total RMET scores than patients without such behaviors (p=0.028). ConclusionIn conclusion, ASPD patients experience difficulty in reading the mind in the eyes, exhibit less empathy toward others, and have more pronounced alexithymia. Our observations suggest that ASPD patients experience challenges in the theory of mind concepts as well as in understanding and identifying the emotions of others and the self. We believe that comprehensive therapy programs specifically developed for ASPD patients and encompassing both the theory of mind and emotional perception may assist in improving these concepts that have significant roles in social interactions.

Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4

Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male child who presented with a history of self-mutilating behavior leading to ulcers over knees, elbows, toes and occiput, and amputation of index fingers of both hands. The patient had loss of temperature and pain sensation, but touch was normal. There was anhidrosis. Serum uric acid levels were normal. Histamine test was absent, and nerve studies showed decreased conduction velocity. A diagnosis of HSAN Type IV was made. This case is being presented as self-mutilation was the prominent complaint of the parents of the child. We also discuss the differences between HSAN Type IV and Lesch−Nyhan syndrome.

Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis.

Hereditary sensory autonomic neuropathy type VIII (HSAN VIII) is a rare genetic disorder that characterized by insensitivity to pain, anhidrosis, self-mutilation, and absence of corneal reflex. We here report a 2-year-old female child presented with corneal opacity and was diagnosed HSAN VIII by its typical clinical features confirmed by gene analysis revealing the presence of homozygous mutation in the PRDM12 gene. Case Summary A 2-year-old female child was presented with complaint of corneal opacity in both eyes noticed 4 months ago [Figure 1a]. The mother also complained of missing both upper and lower front teeth [Figure 1b]. Frequent history of trauma either unknown or self-mutilated without any sign of discomfort was revealed. No lacrimation during cry, lack of sweating with dry skin, and recurrent episodes of unexplained fever were also noticed [Figure 1c]. She was the only child of consanguineous marriage with no similar disease in the family. General examination revealed evidence of mutilation such as multiple scars, well-defined nontender ulcers over face and limbs, and shortening of distal phalanges [Figure 1d-f]. Ocular examination showed absence of corneal sensation with corneal scar. Neurologic examination found generalized absence of pain and temperature perception with loss of reflexes. Gene analysis revealed the presence of homozygous mutation in the PRDM12 gene confirming the diagnosis of HSAN VIII.Figure 1: Composite picture depicting various manifestations of a child with hereditary sensory and autonomic neuropathy type VIII: (a) bilateral corneal scarring, (b) missing upper and lower front teeth, (c) dry skin, (d) painless ulcer on the right ankle, and (e and f) mutilated distal phalanges of hand and feetHSAN type VIII comprises a group of genetic disorders involving sensory and autonomic dysfunctions, described as a rare autosomal recessive disorder caused by homozygous mutation in the PRDM12 gene on chromosome 9q34.[12] It is characterized by insensitivity to pain and thermal stimuli, altered sweat and tear formation, self-mutilation behavior, absence of the corneal reflex resulting in corneal scarring and presence of repeated infections of the skin and bone that are also common [Table 1].[34] The diagnosis of HSAN is challenging due to its rarity and lack of simple diagnostic tests. The affected persons are vulnerable to severe complications and self-mutilation. Therefore, early identification and appropriate management are necessary to avoid severe injuries and its consequences.[5]Table 1: Reported cases of hereditary sensory autonomic neuropathy type VIII (HSAN VIII)Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.