[Psychological and mental aspects of increased tooth abrasion]. / Psikhologicheskie i psikhicheskie aspekty povyshennoi stiraemosti zubov.

The analysis of literary and other information sources (in PubMed, Google Scholar, KiberLeninka and eLibrary databases) devoted to the study of dental manifestations of psychological conditions and the analysis of the ability of dentists to identify psychological predictors of increased tooth erasure in adolescents and young people. Disorders such as stress, depression, attention deficit hyperactivity disorder, alcohol dependence, eating disorders - may be risk factors for the development of increased tooth abrasion. Comorbid conditions such as bruxism and gastroesophageal reflux are also considered. Due to the high mortality of adolescents due to mental illness, early diagnosis of disorders of psychological and mental health of adolescents is extremely relevant. Attention is focused on the possibility of early diagnosis by dentists of psychological and mental problems by the presence and type of increased erasability of teeth. Effective examination and treatment of such patients requires a holistic, interdisciplinary approach.

Neurological symptoms in Hypophosphatasia.

Hypophosphatasia (HPP) typically manifests with fractures, tooth loss, and muscle pain. Although mental health diagnoses and neurological symptoms have not been previously well documented in HPP, they occur commonly. The recognition of non-traditional symptoms may improve patient satisfaction, preempt costly evaluation and misdiagnosis, and lead to further treatment options. INTRODUCTION: Hypophosphatasia (HPP) is an inborn error of metabolism due to deficiency of tissue non-specific alkaline phosphatase (TNSALP). It is traditionally characterized by rickets in children and osteomalacia in adults, along with fractures, tooth loss, and muscle pain. Neurological symptoms and mental health diagnoses have not been widely reported, and we therefore report their prevalence in a cohort of patients with HPP. METHODS: A retrospective chart review was performed on a series of 82 HPP patients. Patient charts were reviewed to identify the possible presence and onset of 13 common neurological symptoms. RESULTS: Median age was 36 years (2 to 79). Seventeen had adult onset HPP (> 18 years) and 65 had pediatric onset HPP (< 18 years). Median time from symptom onset to HPP diagnosis was 8 years (0 to 67). Seventy-four percent had a family history of bone disease, while 17% had a family history of neurologic disease. Bone problems occurred in 89%, dental problems in 77%, and muscle problems in 66%. Fatigue occurred in 66%, headache in 61%, sleep disturbance in 51%, gait change in 44%, vertigo in 43%, depression in 39%, anxiety in 35%, neuropathy in 35%, and hearing loss in 33%. CONCLUSIONS: The extra-skeletal manifestations of HPP, specifically neurological symptoms, have not been previously well documented. However, mental health diagnoses and neurological symptoms such as headache and sleep disturbance occur commonly in patients with HPP. The recognition of non-traditional symptoms in HPP may improve patient satisfaction, preempt costly evaluation and misdiagnosis, and may lead to further treatment options.

Measuring Resilience to Operational Stress in Canadian Armed Forces Personnel.

Adaptability to stress is governed by innate resilience, comprised of complex neuroendocrine and immune mechanisms alongside inherited or learned behavioral traits. Based on their capacity to adapt, some people thrive in stressful situations, whereas others experience maladaptation. In our study, we used state-of-the-art tools to assess the resilience level in individuals, as well as their susceptibility to developing military stress-induced behavioral and cognitive deficits. To address this complex question, we tested Canadian Armed Forces (CAF) personnel in three distinct stress environments (baselines): during predeployment training, deployment in Afghanistan, and readjustment upon return to Canada. Our comprehensive outcome measures included psychometric tests, saliva biomarkers, and computerized cognitive tests that used the Cambridge Neuropsychological Automated Test Battery. Participants were categorized based on initial biomarker measurements as being at low-, moderate-, or high stress-maladaptation risk. Biomarkers showed significant changes (ds = 0.56 to 2.44) between baselines, calculated as "delta" changes. Participants at low stress-maladaptation risk demonstrated minimal changes, whereas those at high stress-maladaptation risk showed significant biomarker variations. The psychometric patterns and cognitive functions were likewise affected across baselines, suggesting that the panel of saliva stress biomarkers could be a useful tool for determining the risk of stress maladaptation that can cause psychological and cognitive decline.

The curious ability of polyethylene glycol fusion technologies to restore lost behaviors after nerve severance.

Traumatic injuries to PNS and CNS axons are not uncommon. Restoration of lost behaviors following severance of mammalian peripheral nerve axons (PNAs) relies on regeneration by slow outgrowths and is typically poor or nonexistent when after ablation or injuries close to the soma. Behavioral recovery after severing spinal tract axons (STAs) is poor because STAs do not naturally regenerate. Current techniques to enhance PNA and/or STA regeneration have had limited success and do not prevent the onset of Wallerian degeneration of severed distal segments. This Review describes the use of a recently developed polyethylene glycol (PEG) fusion technology combining concepts from biochemical engineering, cell biology, and clinical microsurgery. Within minutes after microsuturing carefully trimmed cut ends and applying a well-specified sequence of solutions, PEG-fused axons exhibit morphological continuity (assessed by intra-axonal dye diffusion) and electrophysiological continuity (assessed by conduction of action potentials) across the lesion site. Wallerian degeneration of PEG-fused PNAs is greatly reduced as measured by counts of sensory and/or motor axons and maintenance of axonal diameters and neuromuscular synapses. After PEG-fusion repair, cut-severed, crush-severed, or ablated PNAs or crush-severed STAs rapidly (within days to weeks), more completely, and permanently restore PNA- or STA-mediated behaviors compared with nontreated or conventionally treated animals. PEG-fusion success is enhanced or decreased by applying antioxidants or oxidants, trimming cut ends or stretching axons, and exposure to Ca(2+) -free or Ca(2+) -containing solutions, respectively. PEG-fusion technology employs surgical techniques and chemicals already used by clinicians and has the potential to produce a paradigm shift in the treatment of traumatic injuries to PNAs and STAs.

Effects of extracellular calcium and surgical techniques on restoration of axonal continuity by polyethylene glycol fusion following complete cut or crush severance of rat sciatic nerves.

Complete crush or cut severance of sciatic nerve axons in rats and other mammals produces immediate loss of axonal continuity. Loss of locomotor functions subserved by those axons is restored only after months, if ever, by outgrowths regenerating at ∼1 mm/day from the proximal stumps of severed axonal segments. The distal stump of a severed axon typically begins to degenerate in 1-3 days. We recently developed a polyethylene glycol (PEG) fusion technology, consisting of sequential exposure of severed axonal ends to hypotonic Ca(2+) -free saline, methylene blue, PEG in distilled water, and finally Ca(2+) -containing isotonic saline. This study examines factors that affect the PEG fusion restoration of axonal continuity within minutes, as measured by conduction of action potentials and diffusion of an intracellular fluorescent dye across the lesion site of rat sciatic nerves completely cut or crush severed in the midthigh. Also examined are factors that affect the longer-term PEG fusion restoration of lost behavioral functions within days to weeks, as measured by the sciatic functional index. We report that exposure of cut-severed axonal ends to Ca(2+) -containing saline prior to PEG fusion and stretch/tension of proximal or distal axonal segments of cut-severed axons decrease PEG fusion success. Conversely, trimming cut-severed ends in Ca(2+) -free saline just prior to PEG fusion increases PEG fusion success. PEG fusion prevents or retards the Wallerian degeneration of cut-severed axons, as assessed by measures of axon diameter and G ratio. PEG fusion may produce a paradigm shift in the treatment of peripheral nerve injuries. © 2016 Wiley Periodicals, Inc.

Vision-related quality of life and psychological status in Chinese women with Sjogren's syndrome dry eye: a case-control study.

BACKGROUND: Sjogren's syndrome dry eye (SSDE) mainly affects middle-aged women and can negatively affect women's psychological and social functioning. However, little is known about the correlation between vision-related quality of life (VR-QoL) and psychological status for women with SSDE. We therefore examined VR-QoL and psychological status in two groups of Chinese women: an SSDE group and a non-SSDE group. We also explored the associations between VR-QoL scores, sociodemographic measures, ophthalmologic parameters, and psychological status in women with SSDE. METHODS: The case-control study recruited 30 female outpatients with SSDE and 30 without SSDE from the Eye and Ear, Nose, and Throat (ENT) Hospital of Fudan University. Demographic and ophthalmologic data were collected from all participants. Ophthalmologic examinations included best-corrected visual acuity (BCVA), corneal fluorescein staining (CFS), tear break-up time (TBUT) and Schirmer test. Data collected using the National Eye Institute's Visual Function Questionnaire (NEI-VFQ) and Ocular Surface Disease Index (OSDI) survey instruments were analyzed to identify potential differences in VR-QoL between the SSDE group and the non-SSDE group. We also used the Zung Self-Rating Anxiety and Self-Rating Depression Scales (SAS and SDS) to determine psychological status in both groups. RESULTS: The SSDE group scored significantly lower than the non-SSDE group on the NEI-VFQ subscales of general health, general vision, and long-distance vision activities (all p < 0.05). The SSDE group achieved a significantly higher ocular symptoms score compared with the control group (p = 0.0256). The SAS and SDS scores of the SSDE group were significantly higher than the non-SSDE group (p = 0.0072 and 0.0162, respectively). The prevalence of anxiety and depression in the SSDE group was significantly higher than the non-SSDE group (p = 0.0240 and 0.0200, respectively). Nine of twelve NEI-VFQ subscales were negatively correlated with SAS/SDS scores (all p values were <0.05). The exceptions were social function, color vision and peripheral vision. The composite OSDI score and its three subscale scores for the women in the SSDE group were all positively correlated with overall SAS/SDS scores (all p values were <0.05). CONCLUSIONS: Both VR-QoL and psychological status were significantly worse in SSDE group than in the non-SSDE group. The VR-QoL of women with SSDE had a negative correlation with their anxiety and depression levels.

Polyethylene glycol-fused allografts produce rapid behavioral recovery after ablation of sciatic nerve segments.

Restoration of neuronal functions by outgrowths regenerating at ∼1 mm/day from the proximal stumps of severed peripheral nerves takes many weeks or months, if it occurs at all, especially after ablation of nerve segments. Distal segments of severed axons typically degenerate in 1-3 days. This study shows that Wallerian degeneration can be prevented or retarded, and lost behavioral function can be restored, following ablation of 0.5-1-cm segments of rat sciatic nerves in host animals. This is achieved by using 0.8-1.1-cm microsutured donor allografts treated with bioengineered solutions varying in ionic and polyethylene glycol (PEG) concentrations (modified PEG-fusion procedure), being careful not to stretch any portion of donor or host sciatic nerves. The data show that PEG fusion permanently restores axonal continuity within minutes, as initially assessed by action potential conduction and intracellular diffusion of dye. Behavioral functions mediated by the sciatic nerve are largely restored within 2-4 weeks, as measured by the sciatic functional index. Increased restoration of sciatic behavioral functions after ablating 0.5-1-cm segments is associated with greater numbers of viable myelinated axons within and distal to PEG-fused allografts. Many such viable myelinated axons are almost certainly spared from Wallerian degeneration by PEG fusion. PEG fusion of donor allografts may produce a paradigm shift in the treatment of peripheral nerve injuries.

"What an Affliction": Mary Todd Lincoln's Fatal Pernicious Anemia.

To date, no single diagnosis has unified the psychiatric illness and the numerous poorly defined physical complaints that Mary Lincoln (née Todd, 1818-1882) suffered in adulthood. Here, I show that her physical ailments spanned 30 years and included sore mouth, pallor, paresthesias, the Lhermitte symptom, fever, headaches, fatigue, resting tachycardia, edema, episodic weight loss, progressive weakness, ataxia, and visual impairment. Long thought hypochondriacal, these findings, plus their time course and her psychopathology (irritability, delusions, hallucinations, with preserved clarity), are all consistent with vitamin B12 deficiency. Pernicious anemia most probably caused this deficiency: she lacked risk factors for other causes, and her consanguineous parents both derived from a region of Scotland having a high incidence of pernicious anemia. A diagnosis of chronic multisystem pernicious anemia would clarify the conduct of Mary Lincoln as First Lady and widow, and illuminate challenges faced by her husband, President Abraham Lincoln. Her case highlights many forgotten features of the natural history of untreated pernicious anemia and is unique in the medical literature in demonstrating such a course extending over a lifetime.

Diurnal cortisol rhythms in youth from risky families: effects of cumulative risk exposure and variation in the serotonin transporter gene-linked polymorphic region (5-HTTLPR) [corrected].

Building on research on cumulative risk and psychopathology, this study examines how cumulative risk exposure is associated with altered diurnal cortisol rhythms in an ethnically diverse, low-income sample of youth. In addition, consistent with a diathesis-stress perspective, this study explores whether the effect of environmental risk is moderated by allelic variation in the promoter region of the serotonin transporter gene-linked polymorphic region (5-HTTLPR). Results show that youth with greater cumulative risk exposure had flatter diurnal cortisol slopes, regardless of 5-HTTLPR genotype. However, the association of cumulative risk with average cortisol output (area under the curve [AUC]) was moderated by the 5-HTTLPR genotype. Among youth homozygous for the long allele, greater cumulative risk exposure was associated with lower cortisol AUC, driven by significant reductions in cortisol levels at waking. In contrast, there was a trend-level association between greater cumulative risk and higher cortisol AUC among youth carrying the short allele, driven by a trend-level increase in bedtime cortisol levels. Findings are discussed with regard to the relevance of dysregulated diurnal cortisol rhythms for the development of psychopathology and the implications of genetically mediated differences in psychophysiological adaptations to stress.

The study of role of stress in children with behavior disorders and orofacial lesions.

AIM: (1) To study the behavior disorders in children between 5 to 15 years. (2) To study the role of stress in causing behavior disorders. (3) To interpret the orofacial findings in children with behavior disorders. (4) Correlate the orofacial findings with behavior disorder. MATERIALS AND METHODS: Ninty children with behavior problems between age of 5 to 15 years along with their parents who visited the Department of Child-Guidance Clinic, BYL Nair Charitable Hospital, Mumbai. Intraoral examinations were conducted. Behavioral disorders and factors predisposing to those disorders were recorded. RESULTS: Behavior disorders with orofacial lesions was more common in age group of 8 to 10 years. The children were continuously under stress, which manifested in the form of various orofacial disorders or oral lesions. Most common orofacial condition was bruxism. CONCLUSION: Awareness of behavior disorders in dental treatment should guide the pediatric dentist to seek child psychiatric consultation for behavioral disorders to enable early evaluation of the underlying disorder. CLINICAL SIGNIFICANCE: The present study suggested that orofacial and behavior characteristics can serve as markers to diagnose children with behavioral disorders. It also serves as a guide to dental clinicians to refer such children to psychiatrists or pediatricians for early identification, prevention and treatment.

Allostasis and the development of internalizing and externalizing problems: changing relations with physiological systems across adolescence.

Allostasis, or the maintenance of stability through physiological change, refers to the process by which individuals adjust to the continually changing demands that are put upon somatic activity by salient events. Bauer and colleagues proposed that allostasis could be detected through patterns of the joint reactivity of the autonomic nervous system (ANS) and hypothalamic-pituitary-adrenal (HPA) axis system under stressful conditions. We examined the associations between ANS and HPA reactivity and the development of externalizing and internalizing problems over 2 years in a sample of 215 adolescents. The interactions of ANS and HPA reactivity were contemporaneously associated with, and longitudinally predictive of, adolescents' emotional and behavioral problems. Adolescents with symmetrical high reactivity across systems had more internalizing and fewer externalizing problems initially. Over time, both symmetrical and asymmetrical reactivity predicted increasing internalizing problems in girls, depending on the measure of ANS activity that was examined, heart rate, or blood pressure reactivity. Implications for the understanding of allostasis and the dynamic nature of the relations between multiple physiological regulatory systems and adolescents' developing psychopathology are discussed.

Influence of early life stress on later hypothalamic-pituitary-adrenal axis functioning and its covariation with mental health symptoms: a study of the allostatic process from childhood into adolescence.

The hypothalamic-pituitary-adrenal (HPA) axis is a primary mechanism in the allostatic process through which early life stress (ELS) contributes to disease. Studies of the influence of ELS on children's HPA axis functioning have yielded inconsistent findings. To address this issue, the present study considers multiple types of ELS (maternal depression, paternal depression, and family expressed anger), mental health symptoms, and two components of HPA functioning (traitlike and epoch-specific activity) in a long-term prospective community study of 357 children. ELS was assessed during the infancy and preschool periods; mental health symptoms and cortisol were assessed at child ages 9, 11, 13, and 15 years. A three-level hierarchical linear model addressed questions regarding the influences of ELS on HPA functioning and its covariation with mental health symptoms. ELS influenced traitlike cortisol level and slope, with both hyper- and hypoarousal evident depending on type of ELS. Further, type(s) of ELS influenced covariation of epoch-specific HPA functioning and mental health symptoms, with a tighter coupling of HPA alterations with symptom severity among children exposed previously to ELS. Results highlight the importance of examining multiple types of ELS and dynamic HPA functioning in order to capture the allostatic process unfolding across the transition into adolescence.

Significance of cannabis use to dental practice.

The illicit use of the three main forms of cannabis-marijuana, hash, hash oil-pose certain obstacles and challenges to the dental professional. There are a number of systemic, as well as oral/head and neck manifestations, associated with cannabis use. Dentists need to be aware of these manifestations in order to take whatever precautions and/or modifications to the proposed treatment that might be necessary.

The psychological aspects of burning mouth syndrome.

It should be emphasized that at the present stage there is no consensus achieved regarding the etiopathogenesis of BMS. Almost all researchers point to lots of factors, simultaneously participating in genesis and development of BMS and at the same time most of them agreed on one - psychological factors play a crucial role in formation and maintenance of painful sensations. The aim of the study was the identification of psychological or psychiatric deviations (changes) among the patients with BMS to perform an adequate differentiated therapy. Clinico-psychological examination (dentist, neurologist, psychiatrist) was carried out in 39 patients from 46 to 70 years of age. Among them women - 36 and men - 3. To identify clinical types of BMS a classification of P.J. Lamey (1996) was used and as a result, depression, insomnia, cancerophobia, severe neurologic disorders, phobic syndrome were revealed. Three main categories - a chronic somatoform dysfunction (23 cases), chronic vegetative disorders (8), and chronic pain phenomenon (12) were identified. Only in one case was revealed a paranoid syndrome. Alongside with the well-known scheme of treatment (antidepressants, anticonvulsants, or neuroleptics) Psychotherapy was conducted, while EEG-feed back (Biofeed back, Neurofeed back) method was used for the first time. A number of important decisions were made the most important of which are the following: BMS - must be regarded as a psychosomatic problem rather than a psychiatric disorder. In addition to psychotherapy, using of EEG - feedback method greatly improved patients' condition and in 4 cases BMS clinical manifestations were evened-out completely.

Childhood traumata, Dexamethasone Suppression Test and psychiatric symptoms: a trans-diagnostic approach.

BACKGROUND: Childhood traumatic events and functional abnormalities of the hypothalamus-pituitary-adrenal (HPA) axis have been widely reported in psychiatric patients, although neither is specific for any diagnosis. Among the limited number of studies that have evaluated these topics, none has adopted a trans-diagnostic approach. The aim of the present research is to explore the relationship between childhood stressors, HPA axis function and psychiatric symptoms, independent of the diagnosis. METHOD: A total of 93 moderate to severely ill psychiatric out-patients of Florence and Pisa University Psychiatric Units and 33 healthy control subjects were recruited. The assessment consisted of salivary cortisol pre- and post-low dose (0.5 mg) Dexamethasone, early and recent life events, 121 psychiatric symptoms independent of diagnosis, SCID, BPRS. RESULTS: In total, 33.5% of patients were Dexamethasone Suppression Test (DST) non-suppressors, compared with 6.1% of controls (p=0.001). Among patients, non-suppression was associated with particular symptoms (i.e. depressive and psychotic), but not to any specific diagnosis. Early stressful life events were significantly associated with higher salivary cortisol levels, with DST non-suppression and with approximately the same subset of symptoms. A recent stressful event seemed to be associated to the HPA response only in those subjects who were exposed to early traumata. CONCLUSIONS: Our report suggests a relationship between life stress, HPA axis and psychopathology. A cluster of specific psychiatric symptoms seems to be stress related. Moreover, it seems that an abnormal HPA response is possibly triggered by an excessive pressure in vulnerable individuals.

[Functional somatic syndrome in dental practice].

Functional somatic syndromes (FSSs) are common in dental as well as medical practice. Many patients with unexplained symptoms in oro-maxillo-facial areas visit dentists, but they are not diagnosed and treated properly. Temporomandibular disorder, atypical facial pain, and glossodynia (burning mouth syndrome) are included in dental FSSs. These diseases overlap with each other and with FSSs in other organs, such as myofacial pain syndrome, tension-type headache, fibromyalgia, and chronic fatigue syndrome. They coexist with mental disorders, such as anxiety disorder, mood disorder, and somatoform disorder. Multidisciplinary and holistic approaches should be applied to dental FSSs; pharmacological therapy (antidepressants), physical therapy, and cognitive-behavioral therapy. Clinicians have to support a patient in"enjoying his/her life with symptoms". Dental specialists in "oral medicine" with psychosomatic viewpoints are now required.

Severe tooth loss secondary to orofacial dyskinesias in anti-NMDA receptor encephalitis.

A 24-year-old woman with no significant medical or psychiatric history was brought to the emergency department due to altered mental status and bizarre behaviour. Physical examination was remarkable for decreased speech output and orofacial dyskinesia. Upon further evaluation, electroencephalogram showed extreme delta brush waves and cerebrospinal fluid was positive for anti-NMDA receptor antibodies. Despite aggressive treatment with steroids and immunosuppressive therapy, her dyskinesia was severe enough to cause tooth loss, tongue and lip laceration.

Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease?

BACKGROUND: It is known that secondary hyperparathyroidism (SH) and particularly skeletal changes is a severe condition in chronic kidney disease (CKD). Sagliker syndrome (SS) is a very prominent feature in CKD including uglifying human face appearances, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems. METHODS: In the last 8 years we have confronted 36 extremely incredible SS cases in CKD by performing an international study in Turkey, India, Malaysia, Romania and Egypt. RESULTS: In addition to the uglifying human face appearance, we found extremely severe X-ray and tomographical, pantomographical, histo-pathological changes in the head and whole body. Finally, we compared previous face pictures with recent ones. Just a few years earlier they had been pretty and good-looking young boys and girls. By investigating their history, we understood they had not received proper therapy and were in the late-irreversible period. CONCLUSION: SS is a serious and severe complication of CKD. Late and improper treatment leads to abnormalities throughout skeleton particularly in the skull and face. Changes particularly in children and teens become irreversible-disastrous for appearance and psychological health. Appropriate treatment must begin as early as possible in specialized centers. It is possible that SS patients may survive long-term with dialysis, but with all those particular changes could anyone claim this type of life would continue in an acceptable way without extending their height, correcting all the changes in the skull and face, remodeling new faces and most particularly convincing the patients to deal with all those tragi-dramatic psychological problems?

Prevalence and correlates of common mental disorders among dental students in Brazil.

This study aimed to estimate prevalence of common mental disorders (CMD) and associated factors among dental students. In this cross-sectional study, 230 students answered a questionnaire and instruments to assess CMD (Self Reporting Questionnaire-20), hazardous alcohol consumption (Alcohol Use Disorder Identification Test), social support (Social Support Scale), perceptions of academic life (Dundee Ready Education Environment Measure), coping (Ways of Coping Inventory) and resilience (Resilience Scale). Bivariate analysis was conducted using the Chi-Square and Mann-Whitney tests. Logistic regression included all explanatory variableswith p<0.20 in the bivariate analysis, besides sex and academic year. The explanatory variables were analyzed in five successive blocks (backward-stepwise), until all variables presented statistical significance in the final model (p<0.05). The prevalence of CMD was 45.2% (95%CI: 38.7-51.6), with no significant differences between sexes. Students with no extracurricular activities, who had negatively self- assessed their health status and their academic performance, were about four times more likely to present CMD, followed by receiving psychological or psychiatric treatment during university (AOR: 2.65; 95%CI: 1.1-6.1) and those with high scores for confrontive coping (AOR: 1.20; 95%CI: 1.0-1.4). Resilience was a protective factor for CMD among dental students (AOR: 0.93; 95%CI: 0.9-1.0). Aspects related to academic performance, health status and confrontive coping strategies were risk factors to students' mental health. Individuals with high levels of resilience showed lower prevalence of CMD. Further prospective studies could contribute to understanding the role of resilience among this population.

Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.

PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an update on treatment for associated psychiatric and behavioral disorders. RECENT FINDINGS: Psychiatric management utilizes combined behavioral and pharmacological treatment in conjunction with protective equipment and dental management to avert self-injury. Pharmacological management focuses on stabilization of mood and anxiety management. S-adenosylmethionine (SAMe), a physiological intermediate in methylation and transsulfuration, has shown beneficial effects in carefully selected patients who can tolerate the drug. Deep brain stimulation is shown in several case reports and series to reduce or eliminate self-injury and aggression, and in some cases, modify dystonia. SUMMARY: This review highlights progress in our understanding of the behavioral and neurocognitive phenotype of Lesch-Nyhan syndrome (HGprt deficiency) and its variants, describes psychiatric and behavioral management, and discusses prospects for new therapies.