Diagnosis and management of Autism Spectrum Disorder

Autism Spectrum Disorder is a neurodevelopment disorder that deals with the antisocial behavior of the patient, verbal or nonverbal communication in first three year of birth, with lack of emotional understanding of patient as well as other and also do not point toward thing patient wants. Person suffering from ASD also suffer with seizures and half epileptic seizures as well. The patient also has Restricted, repetitive behavior, interests, or activities. The study for ASD describes that there are three type of ASD • Rett syndrome • Asperger's Syndrome. • Pervasive Development Disorder. The etiology explains that ASD is not single disorder it comes with multiple functional disorder. Single gene mutation also responsible for development disorder as well. Development disorder due to single gene mutation the X chromosome become very fragile and leads to various number of brain and development disorders. In diagnosis which doctor depend upon the behaviors of the patient, the patient does not make any eye contact and some associated behavior also include repetitive behavior, hand flapping. The major due to ASD is epileptic attack because of loss of white matter in brain.

Mixed-methods service evaluation of a multidisciplinary inpatient programme for functional neurological disorder and non-epileptic attack disorder

AimsTo evaluate a multidisciplinary inpatient treatment programme for Functional Neurological Disorder (FND) and Non-Epileptic Attack Disorder (NEAD), focussing on clinical effectiveness and patient experience. To produce recommendations for service development and future evaluation.MethodWe conducted a service evaluation of the multidisciplinary inpatient programme for FND and NEAD at the Rosa Burden Centre. We contacted all inpatients discharged between December 2019 and March 2020 via telephone in August/September 2020. Quantitative outcomes were gathered on quality of life and psychological distress using the EQ-5D-5L and Core10 tools. Scores were compared to those gathered routinely at admission and discharge, using Wilcoxon's test for differences. Qualitative feedback on patient experience was gathered using open-ended prompts, and thematic analysis of this data was conducted independently by two researchers. Approval was gained from Southmead Clinical Audit Department (CE10237).Result19 of 22 patients successfully completed the service evaluation. Quantitative results tended toward improvement on all measures between admission and discharge. Following discharge, there was a mixed pattern - sustained improvement in overall quality of life, but regression in other scores. Improvement in overall quality of life between admission and follow-up was statistically significant (p = 0.012, Z = 2.52). Changes in psychological distress (Core10) were also statistically significant, reducing between admission and discharge (p = 0.004, Z= –2.84) and increasing between discharge and follow-up (p = 0.016, Z = 2.42). Changes in other scores were not statistically significant at the p < 0.05 level. Qualitative results highlighted the value of the individual therapies offered, the multidisciplinary approach, and the supportive environment. Participants reported improved understanding of their diagnosis, and of self-management strategies. There was demand for greater access to psychological therapies, and increased provision of follow-up post-discharge. Some expressed dissatisfaction with the ward round format and excess “down-time”. The programme was described as a “turning point” for 9 participants.ConclusionQuantitative results suggest the programme is associated with global improvement in quality of life, and post-discharge, some benefits are sustained while others are transient. However, interpretation is limited by sample size. We recommend further evaluation with a larger sample to replicate findings, assess effect sizes, and assess which patients or symptoms benefit most. To support this, we recommend improved collection of outcome measures, including routine collection of follow-up data. Positive qualitative findings highlight the strengths of the service and its value to patients. Recommendations for service development include recruiting a psychologist to provide further psychological therapy sessions; expanding the nurse-led follow-up service; and adjustments to the ward round format and activity programme.

Missed Diagnosis of Epilepsy-Associated Scald Burns: Two Cases Initially Diagnosed as Bullous Dermatosis

Thermal burns can occur during seizure. This diagnosis can be difficult in case of atypical lesions, even more if the epilepsy is unknown and in case of seizures with loss of consciousness and/or an unwitnessed epileptic attack. We report two cases of cutaneous bullous lesions initially misdiagnosed as severe acute cutaneous adverse reactions (generalized bullous fixed drug eruption and Stevens–Johnson syndrome). In the two cases, the clinical aspect, necrotic evolution, and absence of obvious attributable medication allowed to revert to the diagnosis of burns due to boiling water revealing previously unknown epilepsy. For both, surgical management with skin graft was performed, and antiepileptic treatment was introduced. Facing unexplained burns, occult epilepsy should be investigated. Questioning of patient and relatives is crucial.

24 An analysis of sentiment and publicity of functional neurological disorder and non-epileptic attack disorder on twitter

ObjectivesTwitter may provide a platform for clinicians and allied health professionals to publicise Functional Neurological Disorder (FND) and Non-Epileptic Attack Disorder (NEAD), and also provides a platform for patients and their communities to discuss the disorders. The prevalence and sentiment of discussions of these disorders have not been reported before now. We wrote a program to collect and analyse ‘Tweets’ about the subjects in their sentiment, connectivity and content.MethodsPreliminary searches and graph analyses identified the most relevant search terms. Tweets were collected automatically, along with available metadata. Sentiment analysis was performed using natural language processing with valence aware dictionary analysis, allowing automatic interpretation of text including idioms and ‘emojis’.Results13347 tweets were collected, with tweets not in English having been excluded from the analysis. The analysis showed a majority positive sentiment in the tweets. The most negative discourse was related to search terms: ‘Medically Unexplained Symptoms’ and ‘Psychosomatic’. Engagement with charities and tweets aiming to promote awareness of the disorders in question were common. Most frequent links to posts about FND were synonyms for the disorder, along with NEAD and charities and awareness movements. For NEAD, the most common links made were with FND, awareness campaigns, synonyms for NEAD, and Chronic Fatigue Syndrome.ConclusionsFND and NEAD have active communities on Twitter. These include both health professionals, patients and lay advocates. The overall sentiment is positive (p<0.05), but with some negativity from sceptical patients and some who are disappointed with their care, and with more negativity associated with certain search terms. (For example, more negative sentiment in tweets about ‘Medically Unexplained Symptoms’ compared to ones about ‘Functional Neurological Disorder’, p<0.0005). Public discourse analysis on websites such as Twitter may prove fruitful for monitoring patient understanding, trends in patient acceptance of diagnosis and factors contributing to these.

Evaluation of ubiquitin C-terminal hydrolase-L1 enzyme levels in patients with epilepsy

ABSTRACT Objective: Ubiquitin C-terminal Hydrolase-L1 (UCH-L1) enzyme levels were investigated in patients with epilepsy, epileptic seizure, remission period, and healthy individuals. Methods: Three main groups were evaluated, including epileptic seizure, patients with epilepsy in the non-seizure period, and healthy volunteers. The patients having a seizure in the Emergency department or brought by a postictal confusion were included in the epileptic attack group. The patients having a seizure attack or presenting to the Neurology outpatient department for follow up were included in the non-seizure (remission period) group. Results: The UCH-L1 enzyme levels of 160 patients with epilepsy (80 patients with epileptic attack and 80 patients with epilepsy in the non-seizure period) and 100 healthy volunteers were compared. Whereas the UCH-L1 enzyme levels were 8.30 (IQR=6.57‒11.40) ng/mL in all patients with epilepsy, they were detected as 3.90 (IQR=3.31‒7.22) ng/mL in healthy volunteers, and significantly increased in numbers for those with epilepsy (p<0.001). However, whereas the UCH-L1 levels were 8.50 (IQR=6.93‒11.16) ng/mL in the patients with epileptic seizures, they were 8.10 (IQR=6.22‒11.93) ng/mL in the non-seizure period, and no significant difference was detected (p=0.6123). When the UCH-L1 cut-off value was taken as 4.34 mg/mL in Receiver Operating Characteristic (ROC) Curve analysis, the sensitivity and specificity detected were 93.75 and 66.00%, respectively (AUG=0.801; p<0.0001; 95%CI 0.747‒0.848) for patients with epilepsy. Conclusion: Even though UCH-L1 levels significantly increased more in patients with epilepsy than in healthy individuals, there was no difference between epileptic seizure and non-seizure periods.

Specialist Cognitive Behavioral Therapist in NEAD, 6 years’ experience, UK

This chapter describes the experience of a specialist cognitive behavioral therapist in Non-Epileptic Attack Disorder (NEAD). Offering therapy for people with NEAD can involve frustrations, difficulties, concerns, and, without a doubt, imposter syndrome. Nevertheless, knowing someone personally growing up with NEAD definitely inspired the therapist to work in this field. The therapist also had an understanding of what NEAD was as a layperson before the therapist became a professional. Moreover, the therapist had lived experience of how this condition affects the person and how it affects family members and friends, relationships, and careers. It creates worry and uncertainty in everyone around, in terms of what the problem is and how to help. Fortunately, the therapist learned quickly about the mind and body connection and how to explain this to patients, and it started to click with people and improve helpful engagement. The more the therapist became experienced, the more the therapist understood, and the less people had episodes in their assessments.

Clinical Neuropsychologist, 20 years’ experience, UK

This chapter explores how dissociation of awareness of either the mind or the body can be experienced by everyone to some degree. It has been suggested that in Non-Epileptic Attack Disorder (NEAD), a protective mechanism of enabling individuals to detach from the difficult emotions they have not yet been able to make sense of has led to a detachment from the awareness of the body, thus resulting in physical symptoms that resemble epileptic seizures. Treatment therefore lies in improving both mind and body awareness. Working with individuals with NEAD or Dissociative Seizures introduces one to the multifaceted nature of humanity. Although there are common themes that emerge through psychological assessment—such as prior experience of illness, neurological insult or physical injury to a specific body part, difficulty recognizing stress in the body or mind, or a tendency to use unhelpful coping strategies during prolonged periods of stress,—no two persons with NEAD have the same seizures because each individual’s experience is unique, making the nature and clinical presentation of the seizure-like experiences idiosyncratic. Despite this, it is always possible to discover the reason that individuals with NEAD experience the symptoms they do, even if it is sometimes initially hard for the individual to accept or believe this.

Junior Doctor (Core Medical Training), 3 years’ experience, UK

This chapter suggests that the best way to learn that someone in the hospital is having or has had a non-epileptic attack is to have a visitor or patient point it out, someone who does not know enough about the condition to hold biases against it, who does not have expectations of what the “right” response should look like. If the author hears about an attack in this way, the author gets that rarest thing in a junior doctor’s working life: freedom. Freedom not to shout for help or pull the emergency buzzer. Freedom not to pin the person down, to fight for blood samples or intravenous access. Most importantly, freedom to do what is necessary to be reassured that the author is watching a non-epileptic attack and to reassure the patient that he or she is safe.

Consultant Nurse, 18 years’ experience, UK

This chapter discusses the need for consistency in the diagnosis and support of people with Non-Epileptic Attack Disorder (NEAD). Even within neurology, this is not always the case. Often, a diagnosis of NEAD follows many years of treatment for presumed epilepsy. There is a reluctance by many neurologists completely to undo that diagnosis, whether originally made by themselves or a predecessor. A vague assertion that some episodes may be NEAD while others are due to epilepsy is of no use to anyone, particularly the patient. Estimates of the incidence of dual diagnoses vary, but the literature consistently suggests that either epileptic or non-epileptic seizures will predominate. Therefore, health professionals need to make every effort to identify clearly which seizures are due to epilepsy, remembering that they will be stereotyped, and which are not.

Epilepsy Nurse, 21 years’ experience, UK

This chapter assesses how the diagnosis and label of Non-Epileptic Attack Disorder (NEAD) produces something of a polarizing effect on those it is given to. Either the person is relatively amenable to the idea or there is an almost, if not total, rejection of the notion of having symptoms that are not generated physically, but psychologically. Indeed, the very nature of the underlying causes of NEAD and the processes involved in protecting oneself from the emotional effects of stress or psychological trauma can make acceptance of the diagnosis less likely as individuals may see this as risking being exposed to the very issues they are trying to protect themselves from in the first place. In addition to the underlying factors that may be producing the non-epileptic symptoms, individuals must try to deal with the diagnosis being “out in the open.” They may possibly be keen to acquire a physical label for their symptoms and embark on a journey seeking out a doctor who might give them such a label, even possibly one of epilepsy. Ultimately, getting a diagnosis of NEAD is very likely to produce increased levels of cognitive dissonance.