Coping with modesty during radiotherapy for breast cancer: a multicentric study.

PURPOSE: Breast cancer is the most frequently diagnosed tumour, representing nearly 30% of all new cases in women. Radiotherapy (RT) plays a crucial role in the management of breast cancer. The objective of this study is to assess modesty in patients undergoing RT for breast cancer and take their suggestions and ideas into consideration to enhance the quality of treatment in this regard. METHODS: The study enrolled 555 breast cancer patients undergoing adjuvant RT in three Italian centres. Patients completed a self-test questionnaire assessing their comfort level concerning modesty during therapy and their relationship with strangers and healthcare professionals. The impact of religious views and potential changes in sexuality were also examined. RESULTS: Results showed that modesty was a common concern across the overall cohort of patients, with discomfort in being undressed during RT correlating with discomfort experienced in other daily life situations. Most patients felt more at ease with same sex healthcare workers. Age was also a major factor with younger patients generally feeling more comfortable with healthcare workers of the same age group. Interestingly, the surgical technique used (mastectomy vs. quadrantectomy) did not significantly influence modesty perceptions. Patients provided valuable suggestions to improve privacy and modesty during RT. CONCLUSION: This study demonstrates that modesty is an important issue for women undergoing RT, which can be influenced by personal characteristics and hospital-related factors. A reflection about the need to address modesty concerns and to incorporate dedicated interventions for protecting patients' physical and emotional well-being is warranted. Initiatives to improve communication, involvement, and body image support should also be integrated into the care path of patients to better their overall therapeutic experience. This study paves the way for broader research and interventions in daily cancer care.

Does botulinum toxin affect psycho-social aspects in dystonia?

Dystonia is a movement disorder in which sustained muscle contractions give rise to abnormal postures or involuntary movements. It is a disabling and disfiguring disorder that affects activities of daily living and gives people a bizarre appearance often associated with psychological morbidity, embarrassment and social avoidance. Intramuscular injection of botulinum toxin (BoNT) is the most effective treatment for motor symptoms in focal dystonia, but little is known about its impact on the psycho-social dimension. The main aim of this study was to evaluate psycho-social changes in patients with focal dystonia after starting BoNT treatment using self-reported scales. The Beck Depression Inventory (BDI-II), the 36-Item Short Form Health Survey (SF-36), the Body Uneasiness Test (BUT), the State-Trait Anxiety Inventory (STAI) and the Visual Analogue Scale (VAS) assessing body self-image, satisfaction with physical aspects, social avoidance, self-reported depression, and self-distress were completed by 11 patients with dystonia and 9 patients with hyperhidrosis as a control group before BoNT (T0). VAS was then performed after four weeks (T1) to assess whether BoNT induced changes in the psychosocial dimension. Our results showed that only depressive symptoms and rumination about body defects improved in patients with dystonia after BoNT treatment, while improvement in self-distress and satisfaction with physical aspects was also found in hyperhidrosis. Individuals with hyperhidrosis experience poorer psychological well-being and suffer from higher levels of distress compared to dystonic patients. This suggests that individuals with this disabling condition are more vulnerable to social impact than dystonic patients.

Beyond pain: the influence of psychological factors on functional status in fibromyalgia.

OBJECTIVES: Fibromyalgia (FM) is characterised by chronic widespread pain, often associated with fatigue, sleep disturbance, cognitive and mood impairment. Pain is a complex and multidimensional experience that significantly impacts personal, social, and professional functioning. Psychological factors related to chronic pain include catastrophising and self-efficacy in managing the painful condition. Therefore, this study explores the influence of chronic pain and related psychological factors on functional outcomes in FM patients. METHODS: In this study, 91 Italian patients with FM were assessed using an online questionnaire. The questionnaire included instruments to assess pain, such as the Numerical Rating Scale (NRS) and the Brief Pain Inventory (BPI), psychological characteristics, such as the Pain Self-Efficacy Questionnaire (PSEQ) and the Pain Catastrophizing Scale (PCS), and health-related quality of life with the 12-item Short Form Survey (SF-12). Multiple regression models were run, using the Interference subscale of the BPI and the physical and mental components of the SF-12 as outcomes, and the NRS, PCS and PSEQ scales as predictors. RESULTS: Our analysis revealed that in our model, both PCS and PSEQ were significant predictors of BPI-Interference (PCS: ß=0.29; p=0.001; PSEQ: ß=-0.36; p<0.001); NRS and PSEQ significantly predicted SF-12-Physical score (NRS: ß=-0.32; p=<0.001; PSEQ: ß=.50; p<0.001); PCS was found to be the only significant predictor of SF-12-Mental scores (ß=-0.53; p<0.001). CONCLUSIONS: Our results suggested that psychological variables such as catastrophic thinking and self-efficacy play a significant role in determining daily functioning and physical and mental health status in FM patients, showing greater influence than pain intensity.

Exploring the emotional and behavioural profile in paediatric narcolepsy type 1: A case-control study.

Narcolepsy type 1 (NT1) is a central disorder of hypersomnolence often arising in childhood and adolescence. NT1 has a significant, but poorly defined, psychological impact. We aimed to investigate the psycho-social functioning of children and adolescents with NT1. We performed a cross-sectional, child and parent-reported questionnaire survey in 37 children and adolescents (6-17 years) with NT1, compared with age- and sex-matched controls. Questionnaires (SSHS, ESS-CHAD, CDI, MASC, CBCL, CRS-R, and SNAP-IV) evaluated various aspects of behavioural and emotional profiles, sleep habits, and daytime sleepiness. Subsequently, NT1 intra-group analysis was performed to investigate the effect of sex (males vs females) and pharmacological treatment (treated vs non-treated) on psychological features. The NT1 questionnaires total scores were then correlated with the clinical characteristics (age, body mass index [BMI], ESS-CHAD score, cerebrospinal hypocretin-1 [Hcrt-1] levels, and diagnostic delay). Patients with NT1 showed a higher tendency to depressive symptoms, anxiety, somatisation, inattention, hyperactivity, oppositional/defiant problems, and other maladaptive behaviours compared with controls. Among NT1 patients, females showed a higher propensity to anxiety, and non-treated patients displayed higher depressive symptoms. Psychological symptoms increased with age, BMI, and daytime sleepiness in patients with NT1, while a younger age was associated with more frequent somatisation symptoms. Lower cerebrospinal Hcrt-1 levels correlated with poorer social competencies, daily activities, and inattention. Diagnostic delay was associated with a higher impact of depressive symptoms and behavioural problems. NT1 in children and adolescents is associated with poorer functioning in multiple psychological domains calling for a multidisciplinary approach and monitoring to reduce disease burden and to prevent psychiatric consequences.

The Italian version of the Pediatric Quality of Life Inventory™ (PEDSQL™) 3.0 healthcare satisfaction hematology/oncology module: reliability and validity in radiation oncology.

BACKGROUND: Health-related quality of life (HRQOL) measurement has become an important health care outcome even in oncological pediatric scenario. During radiation therapy care path, pediatric patients and their relatives may suffer from emotional and psychosocial distress not only related to cancer diagnosis, but also due to the procedure and the required daily routine. Despite the high prevalence of psychosocial consequences in this setting, instruments that inquire pediatric HRQOL and healthcare satisfaction have rarely been studied in Italy. Purpose of this study was to investigate reliability and linguistic validation of the PedsQL™ healthcare satisfaction Hematology/Oncology module from its original English version to Italian language. METHODS: Three phases standard procedure of cross-culture adaptation were used to create Italian version of PedsQL™ healthcare satisfaction Hematology/Oncology module. Forward translations and backward translations were performed. Finally, a pilot-testing for understandability of the 'pre-final' version was conducted with parents of children attending our Radiotherapy Center using two methodologies of Cognitive Interviewing ("Think-aloud Interviews" and "Respondent Debriefing"), in order to obtain the final Italian version of the PedsQL™ healthcare satisfaction Hematology/Oncology module. RESULTS: Twenty-five parents (2 father, 23 mothers) were recruited during their children's radiotherapy treatment and the grammatically and conceptually acceptable pre-final version of the PedsQL™ Healthcare Satisfaction Hematology/Oncology Module was administered. The questionnaire was well understood reflecting its linguistic adaptation. Compliance with questionnaire administration was optimal. All subjects stated that the questions were interesting to express their opinion, most of them reported that all the questions of each section were clearly comprehensible and easy to understand, suggesting minimal changes that were double-checked with back translation. Furthermore, six of them spontaneously asked to complete the questionnaire in order to review the assistance received during radiotherapy. CONCLUSION: Our Italian version of the PedsQL™ 3.0 Healthcare Satisfaction Hematology/Oncology Module seems to be a valid and functional instrument to indagate Healthcare Satisfaction.

Psychological treatment of traumatic memories in COVID-19 survivors.

The COVID-19 pandemic, which has affected a significant number of individuals worldwide, is generating serious mental health issues. Recovered COVID-19 patients have experienced traumatic events related to their symptoms, isolation, possible hospitalization, bereavement, fear of infecting loved ones and the physical consequences of COVID-19. One effective psychological treatment for these patients is Eye Movement Desensitization and Reprocessing (EMDR). The aim of this paper is to describe the therapeutic intervention and effects of EMDR in a pool of COVID-19 survivors referred to an integrated psychological/psychiatric outpatient service. Twelve patients, comprising of nine males and three females, underwent EMDR psychotherapy from October 2020 to February 2022. Each patient received 8-16 weekly treatment sessions. The standard EMDR protocol of eight stages was administered to enable desensitization and reprocessing of four main targets: first positive swab, hospitalization, isolation and fear for relatives' health. Efficacy of EMDR was demonstrated by the significant improvement at clinical scale for subjective distress caused by traumatic events. For the therapists, carrying out these treatments was an intense and challenging experience. In fact, the perceived distance between therapist and patient was less defined than in other hospital settings because the pandemic affects everyone equally. However, with the widespread availability of vaccines and although the pandemic is still ongoing with the emergence of new variants, a window of improvement in the mental health landscape is starting to open up.

Signs of Dissociation and Symptoms of Post-Traumatic Stress Disorder in Inflammatory Bowel Disease: A Case-Control Study.

BACKGROUND: Several psychological disorders have been described in patients affected by inflammatory bowel disease (IBD). Few studies have focused on the relationship between IBD and post-traumatic stress disorder (PTSD) symptoms, and no data are available on the relationship between IBD and dissociative symptoms. The aim of the present study was to evaluate the prevalence of PTSD and dissociative symptoms in a sample of IBD patients compared to healthy controls. A possible relationship with disease activity was also investigated. METHODS: A total of 112 IBD patients, 55 Crohn's disease (CD) and 57 ulcerative colitis (UC), and 114 healthy individuals were evaluated. IBD patients were divided into 3 subgroups according to disease activity (remission, mild, and moderate). The revised version of the Impact of Event Scale (IES-R) and the Dissociative Experience Scale (DES) were administered to patients and controls. RESULTS: IBD patients showed significantly higher rates of PTSD and dissociative symptoms compared to healthy controls. No differences were found between CD and UC patients. PTSD and dissociative symptoms were higher among CD patients with mild to moderate-severe activity compared to the remission group. No differences were found among UC patients with different activity levels. CONCLUSION: IBD patients show a high prevalence of dissociative and traumatic affective disorders. Future studies are needed to investigate the role of these disorders in the clinical course and management of IBD patients according to the different disease activity phase.

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.

BACKGROUND: Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children. METHODS: A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three). RESULTS: Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery." CONCLUSIONS: The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.

Emotional dysregulation mediates the impact of childhood trauma on psychological distress: First Italian data during the early phase of COVID-19 outbreak.

BACKGROUND: The coronavirus disease 2019 pandemic represents an unprecedented traumatic stressor to mental health. Psychological distress is considered a reliable proxy for psychopathology and can be negatively influenced by childhood trauma through sensitization effects. Emotion dysregulation has been proposed as a potential mediator of this mechanism. We aimed to test this hypothesis in a national Italian sample assessed in the early phase of the coronavirus disease 2019 outbreak. METHODS: We investigated the relationship between psychological distress and childhood trauma in 500 healthy participants assessed through a survey-based study, after the coronavirus disease 2019 pandemic lockdown in Italy. Levels of psychological distress and history of childhood trauma were obtained using the Kessler-10 (K10) and the Childhood Trauma Questionnaire, respectively. We used bootstrapped mediation analysis to test the mediator role of emotional dysregulation, measured through the Difficulties in Emotion Regulation Scale, on the effect of childhood trauma on psychological distress. RESULTS: In total, 190 (38%) reported psychological distress related to the coronavirus disease 2019 outbreak. Individuals with psychological distress experienced more childhood trauma, specifically emotional abuse (F = 23.51, df = 1, p < 0.001) and neglect (F = 10.98, df = 1, p = 0.001). After modelling the effect of emotional dysregulation, the impact of childhood trauma on coronavirus disease 2019-related psychological distress resulted in indirect effects and mediated by deficits in emotion regulation mechanisms (bootstrapped lower level of confidence interval = 0.345, upper level of confidence interval = 0.598). CONCLUSION: Childhood trauma is associated with increased vulnerability to the stressful effect of the coronavirus disease 2019 outbreak. Our data suggest that emotional dysregulation may represent a dimension mediating the impact of childhood trauma on coronavirus disease 2019-related psychological distress and may be considered as specific target for interventions aiming at empowering resilience.

Role of high-density EEG (hdEEG) in pre-surgical epilepsy evaluation in children: case report and review of the literature.

INTRODUCTION: Electrical source imaging (ESI) and especially hdEEG represent a noninvasive, low cost and accurate method of localizing epileptic zone (EZ). Such capability can greatly increase seizure freedom rate in surgically treated drug resistant epilepsy cases. Furthermore, ESI might be important in intracranial record planning. CASE REPORT: We report the case of a 15 years old boy suffering from drug resistant epilepsy with a previous history of DNET removal. The patient suffered from heterogeneous seizure semiology characterized by anesthesia and loss of tone in the left arm, twisting of the jaw to the left and dysarthria accompanied by daze; lightheadedness sometimes associated with headache and dizziness and at a relatively short time distance negative myoclonus involving the left hand. Clinical evidence poorly match scalp and video EEG monitoring thus requiring hdEEG recording followed by SEEG to define surgical target. Surgery was also guided by ECoG and obtained seizure freedom. DISCUSSION: ESI offers an excellent estimate of EZ, being hdEEG and intracranial recordings especially important in defining it. We analyzed our results together with the data from the literature showing how in children hdEEG might be even more crucial than in adults due to the heterogeneity in seizures phenomenology. The complexity of each case and the technical difficulties in dealing with children, stress even more the importance of a noninvasive tool for diagnosis. In fact, hdEEG not only guided in the presented case SEEG planning but may also in the future offer the possibility to replace it.

Affective temperament, attachment style, and the psychological impact of the COVID-19 outbreak: an early report on the Italian general population.

The outbreak of COVID-19 is severely affecting mental health worldwide, although individual response may vary. This study aims to investigate the psychological distress perceived by the Italian general population during the early phase of the COVID-19 pandemic, and to analyze affective temperament and adult attachment styles as potential mediators. Through an online survey, we collected sociodemographic and lockdown-related information and evaluated distress, temperament, and attachment using the Kessler 10 Psychological Distress Scale (K10), the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-Autoquestionnaire short version (TEMPS-A) and the Attachment Style Questionnaire (ASQ). In our sample (n = 500), 62% of the individuals reported no likelihood of psychological distress, whereas 19.4% and 18.6% displayed mild and moderate-to-severe likelihood. Cyclothymic (OR: 1.24; p < 0.001), depressive (OR: 1.52; p < 0.001) and anxious (OR: 1.58; p = 0.002) temperaments, and the ASQ "Need for approval" (OR: 1.08; p = 0.01) were risk factors for moderate-to-severe psychological distress compared to no distress, while the ASQ "Confidence" (OR: 0.89; p = 0.002) and "Discomfort with closeness" were protective (OR: 0.92; p = 0.001). Cyclothymic (OR: 1.17; p = 0.008) and depressive (OR: 1.32; p = 0.003) temperaments resulted as risk factors in subjects with moderate-to-severe psychological distress compared to mild distress, while the ASQ "Confidence" (OR: 0.92; p = 0.039) and "Discomfort with closeness" (OR: 0.94; p = 0.023) were protective. Our data indicated that a relevant rate of individuals may have experienced psychological distress following the COVID-19 outbreak. Specific affective temperament and attachment features predict the extent of mental health burden. To the best of our knowledge, these are the first data available on the psychological impact of the early phase of the COVID-19 pandemic on a sizeable sample of the Italian population. Moreover, our study is the first to investigate temperament and attachment characteristics in the psychological response to the ongoing pandemic. Our results provide further insight into developing targeted intervention strategies.

Early neurodevelopmental characterization in children with cobalamin C/defect.

Cobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism. Developmental delay, behavioral problems, and maculopathy are common, but they have not been systematically investigated. The aim of this study was to define early neurodevelopment in cblC patients and the possible contribution of different factors, such as mode of diagnosis, age at diagnosis, presence of brain lesions and epilepsy. Children up to the age of 4 years with a visual acuity ≥1/10 were evaluated using the Griffiths' Mental Development Scales. Eighteen children were enrolled (age range 12-48 months). Four were diagnosed by newborn screening (NBS); in the others mean age at diagnosis was 3.5 months (range 0.3-18 months). Eight had seizures: three in the first year, and five after the second year of life. Fourteen had brain lesions on magnetic resonance imaging (MRI). Neurovisual assessment evidenced low visual acuity (<3/10) in 4/18. NBS diagnosed patients had higher general and subquotients neurodevelopmental scores, normal brain MRI, and no epilepsy. The others showed a progressive reduction of the developmental quotient with age and language impairment, which was evident after 24 months of age. Our findings showed a progressive neurodevelopmental deterioration and a specific fall in language development after 24 months in cblC defect. The presence of brain lesions and epilepsy was associated with a worst neurodevelopmental outcome. NBS, avoiding major disease-related events and allowing an earlier treatment initiation, appeared to have a protective effect on the development of brain lesions and to promote a more favorable neurodevelopment.

Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.

PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series. METHODS: The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%). RESULTS: All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits. CONCLUSIONS: SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.

Cerebellar mutism: the predictive role of preoperative language evaluation.

BACKGROUND: The association between preoperative language impairment and development of cerebellar mutism after surgical treatment of posterior fossa tumors has gained increasing interest in recent years based on the concept that both local compression/infiltration of the infratentorial periventricular anatomical structures involved in speech and language, as well as an increased distraction of supratentorial periventricular anatomical structures, due to an associated hydrocephalus, involved in the coordination of speech circuits, might lead to the subclinical presence of language disturbances already at diagnosis, predicting the development of a cerebellar mutism syndrome after tumor removal. METHODS: A thorough review of the literature on the subject has been performed, together with a review of our institutional experience reporting the related long-term (10 years) results. RESULTS AND CONCLUSIONS: According to our institutional experience, 20/70 (28.5%) children presented preoperative language impairment and developed cerebellar mutism after surgery. A residual impairment persists in 75% of the cases at a follow-up of 2 years, and in 50% of the cases at 10 years, a finding which actually depicts cerebellar mutism no more as a transient deficit but among long-term sequelae. The appearance of complex dysarthria in the postoperative period is a negative prognostic factor for the long-term persistence of speech disturbances.

Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.

To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age. Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy.

Bony Decompression for Chiari Malformation Type I: Long-Term Follow-Up.

BACKGROUND: Several surgical techniques are used for the management of Chiari malformation type I (CM-I). Bony posterior fossa decompression is considered a good option in children, though with a higher risk of requiring reoperation. However, there is not enough evidence from the series in the literature, which are often limited by inadequate follow-up. The goal of this study was to assess the effectiveness of suboccipital craniectomy alone in children after long-term follow-up. METHODS: Forty-two children (25 female and 17 male; mean age 6.7 years), operated on with bony decompression alone, were retrospectively reviewed. All patients underwent suboccipital craniectomy. Thirty-eight children required C1 laminectomy, and 21 also underwent dural delamination on the basis of intraoperative ultrasound investigations. The outcome was assessed using the traditional measurement and the Chicago Chiari Outcome Scale (CCOS). The mean follow-up period was 11.3 years (range 5-15 years). RESULTS: Headache was the most frequent preoperative symptom (81%), followed by neck pain (40%), vertigo (40%), ataxia (26%), and upper and lower extremity paraesthesia (26%). Syringomyelia was present in 19 patients (45%). Resolution and significant improvement of preoperative clinical symptoms were observed in 36.5% and 21.5% of cases, respectively. Three children required adjunctive surgery for symptom recurrence (7%). The tonsil position and syringomyelia were normalized or improved in 50% and 79% of cases, respectively. No complications occurred. According to the CCOS scores, 69.5% of children had an excellent outcome, 28.5% had a functional outcome and 2% had an impaired outcome. CONCLUSION: Bony decompression alone is an effective, safe and long-lasting treatment for children with CM-I. A certain risk of symptom recurrence requiring new surgery exists, but it is widely counterbalanced by the low risk of complications. Careful patient selection is crucial for a good outcome. Prospective and randomized studies are needed for further validation.

Disorders of early language development in Dravet syndrome.

The aim of this study was to investigate language disorders prospectively in patients with Dravet syndrome (DS) during the first years of life in order to identify their features and possibly the underlying mechanisms of the disease. At the Child Neurology Unit of Catholic University in Rome (Italy), thirteen patients with typical findings of DS were enrolled in the study. Full clinical observations, including neurological examination and long-term EEG monitoring, were prospectively and serially performed until a mean of 6years of age (range: 4years to 7years and 8months). The epileptic history was also collected in each case. In particular, developmental, cognitive, and detailed language assessments were performed with different tests according to the age of the patient. In addition to cognitive decline, characteristic language impairment was also found with a relative preservation of receptive abilities (comprehension) and a strong impairment of productive skills. This defect in sensorimotor verbal processing integration is discussed to highlight the possible mechanisms underlying cognitive decline.

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

OBJECTIVE: Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside. METHODS: Comparison of our three unusual 4p16.3 deletions with 13 literature reports. Array-comparative genomic hybridization (a-CGH). Real-time polymerase chain reaction (RT-PCR) on messanger RNA (mRNA) of LETM1 and CPLX1. Direct sequencing of LETM1. RESULTS: Three unusual 4p16.3 deletions were detected by array-CGH in absence of a obvious clinical diagnosis of WHS. Two of these, encompassing LETM1, were found in subjects who never had seizures. The deletions were interstitial, spanning 1.1 Mb with preservation of the terminal 1.77 Mb region in one case and 0.84 Mb with preservation of the terminal 1.07 Mb region in the other. The other deletion was terminal, affecting a 0.564 Mb segment, with preservation of LETM1, and it was associated with seizures and learning difficulties. Upon evaluating our patients along with literature reports, we noted that six of eight subjects with terminal 4p deletions preserving LETM1 had seizures, whereas seven of seven with interstitial deletions including LETM1 and preserving the terminal 1 Mb region on 4p did not. An additional chromosome region for seizures is suggested, falling within the terminal 1.5 Mb on 4p, not including LETM1. SIGNIFICANCE: We consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS-associated seizure disorder, according to a comorbidity model of pathogenesis. Additional candidate genes reside in the terminal 1.5 Mb region on 4p, most likely distal to LETM1. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

Psychological Distress Affects Performance during Exercise-Based Cardiac Rehabilitation.

BACKGROUND: It is known that psychosocial distress affects the morbidity and mortality of patients with cardiovascular disease of every age. The aim of this study was to produce novel information on how psychological distress can influence cardiovascular performance in patients after cardiac surgery undergoing multidisciplinary cardiac rehabilitation. METHODS: Patients (n = 57) admitted after cardiac surgery for valvular or coronary disease underwent, within 5 days of admission, the Symptom Checklist-90-Revised (SCL-90-R) self-report questionnaire to measure psychiatric symptoms and the 12-item General Health Questionnaire (GHQ-12) to assess the level of psychological distress. The Positive Symptom Distress Index (PSDI) was measured to indicate the amplitude of symptom distress. Cardiovascular performance was assessed by a 6 min walking test (6MWT) at admission and discharge, and oxygen consumption (VO2 max) was derived. RESULTS: Within the SCL-90-R score, somatic symptoms (47.4%), depressive and anxiety symptoms (36.8% and 33.3%, respectively), symptoms of phobic anxiety (21.1%), and psychoticism (24.6%) were over-represented. As for the GHQ-12, 75.4% of the sample reported an abnormally negative perception of their health status. An inverse correlation was shown between the variation in 6MWT and SCL depression (p = 0.048), PSDI (p = 0.022), and the GHQ-12 (p = 0.040). Similarly, an inverse correlation was shown between the variation in the VO2 max, GHQ-12 (p = 0.041), and the PSDI (p = 0.023). CONCLUSIONS: Post-cardiac surgery cardiac rehabilitation was associated with increased symptoms of psychological discomfort, as compared with the general population. The amplitude of psychological distress, depression, and hostility are associated with limited improvement in performance. These data strengthen the need for psychological support during cardiac rehabilitation programs.