Clinical utility of a personalized and long-term monitoring device for Parkinson's disease in a real clinical practice setting: An expert opinion survey on STAT-ON™.

BACKGROUND: STAT-ON™ is an objective tool that registers ON-OFF fluctuations making possible to know the state of the patient at every moment of the day in normal life. Our aim was to analyze the opinion of different Parkinson's disease experts about the STAT-ON™ tool after using the device in a real clinical practice setting (RCPS). METHODS: STAT-ON™ was provided by the Company Sense4Care to Spanish neurologists for using it in a RCPS. Each neurologist had the device for at least three months and could use it in PD patients at his/her own discretion. In February 2020, a survey with 30 questions was sent to all participants. RESULTS: Two thirds of neurologists (53.8% females; mean age 44.9±9 years old) worked in a Movement Disorders Unit, the average experience in PD was 16±6.9 years, and 40.7% of them had previously used other devices. A total of 119 evaluations were performed in 114 patients (range 2-9 by neurologist; mean 4.5±2.3). STAT-ON™ was considered "quite" to "very useful" by 74% of the neurologists with an overall opinion of 6.9±1.7 (0, worst; 10, best). STAT-ON™ was considered better than diaries by 70.3% of neurologists and a useful tool for the identification of patients with advanced PD by 81.5%. Proper identification of freezing of gait episodes and falls were frequent limitations reported. CONCLUSION: STAT-ON™ could be a useful device for using in PD patients in clinical practice.

Síndrome de Angelman en el adulto / Angelman syndrome in adulthood

Introducción: El síndrome de Angelman (SA) está ampliamente descrito en la infancia, pero existen escasos estudios en edad adulta y la mayoría recoge un pequeño número de pacientes o condiciones específicas, como epilepsia o sueño. Objetivo: El objetivo de este estudio es describir el SA en la edad adulta en nuestro centro, sus necesidades especiales, y el soporte médico y social para mejorar la atención y ofrecer una mejor transición del servicio de pediatría a las unidades de adultos. Pacientes y métodos: Se recogen pacientes con SA genéticamente confirmado, y describimos datos demográficos, médicos y sociales mediante la revisión de historias clínicas, entrevistas telefónicas con el cuidador principal y tres escalas estandarizadas de sueño, dependencia y calidad de vida. Resultados: Se incluye a 30 pacientes con una mediana de edad de 22,7 años: 22 son deleciones, 27 presentan antecedente de epilepsia y 13 están en tratamiento con, al menos, dos fármacos antiepilépticos. Las comorbilidades más frecuentes después de la epilepsia fueron los síntomas psiquiátricos, la escoliosis, el sobrepeso, el estreñimiento y problemas oftalmológicos. El 40% precisó ingresos hospitalarios en la edad adulta, cinco están institucionalizados y 24 reciben terapias no médicas. El médico a cargo es el neurólogo en la mayoría, seguido del neuropediatra. Conclusiones: Es necesario realizar estudios de historia natural más allá de la infancia. Ésta es la primera revisión española de adultos con SA que recoge un amplio espectro de condiciones sociales y médicas de estos pacientes.(AU)

Introduction: Angelman syndrome (AS) is widely described in childhood, but few studies have been conducted in adulthood and most of them report a small number of patients or specific conditions, such as epilepsy or sleep. Aim: The aim of this study is to describe AS in adulthood in our centre, the special needs it requires, and the medical and social support to improve care and to provide a better transition from the paediatric service to units for adults. Patients and methods: We collected patients with genetically confirmed AS, and described demographic, medical and social data by reviewing medical records, telephone interviews with the primary caregiver and three standardised sleep, dependency and quality of life scales. Results: Thirty patients with a median age of 22.7 years were included: 22 were deletions, 27 had a history of epilepsy and 13 were on treatment involving at least two antiepileptic drugs. The most frequent comorbidities after epilepsy were psychiatric symptoms, scoliosis, overweight, constipation and ophthalmological problems. Forty per cent required hospital admissions in adulthood, five were institutionalised and 24 received non-medical therapies. The doctor in charge was the neurologist in most cases, followed by the neuropaediatrician. Conclusions: Studies that examine the natural history beyond childhood are warranted. This is the first Spanish review of adults with AS that covers a broad spectrum of social and medical conditions of these patients.(AU)

[Angelman syndrome in adulthood]. / Síndrome de Angelman en el adulto.

INTRODUCTION: Angelman syndrome (AS) is widely described in childhood, but few studies have been conducted in adulthood and most of them report a small number of patients or specific conditions, such as epilepsy or sleep. AIM: The aim of this study is to describe AS in adulthood in our centre, the special needs it requires, and the medical and social support to improve care and to provide a better transition from the paediatric service to units for adults. PATIENTS AND METHODS: We collected patients with genetically confirmed AS, and described demographic, medical and social data by reviewing medical records, telephone interviews with the primary caregiver and three standardised sleep, dependency and quality of life scales. RESULTS: Thirty patients with a median age of 22.7 years were included: 22 were deletions, 27 had a history of epilepsy and 13 were on treatment involving at least two antiepileptic drugs. The most frequent comorbidities after epilepsy were psychiatric symptoms, scoliosis, overweight, constipation and ophthalmological problems. Forty per cent required hospital admissions in adulthood, five were institutionalised and 24 received non-medical therapies. The doctor in charge was the neurologist in most cases, followed by the neuropaediatrician. CONCLUSIONS: Studies that examine the natural history beyond childhood are warranted. This is the first Spanish review of adults with AS that covers a broad spectrum of social and medical conditions of these patients.

TITLE: Síndrome de Angelman en el adulto.Introducción. El síndrome de Angelman (SA) está ampliamente descrito en la infancia, pero existen escasos estudios en edad adulta y la mayoría recoge un pequeño número de pacientes o condiciones específicas, como epilepsia o sueño. Objetivo. El objetivo de este estudio es describir el SA en la edad adulta en nuestro centro, sus necesidades especiales, y el soporte médico y social para mejorar la atención y ofrecer una mejor transición del servicio de pediatría a las unidades de adultos. Pacientes y métodos. Se recogen pacientes con SA genéticamente confirmado, y describimos datos demográficos, médicos y sociales mediante la revisión de historias clínicas, entrevistas telefónicas con el cuidador principal y tres escalas estandarizadas de sueño, dependencia y calidad de vida. Resultados. Se incluye a 30 pacientes con una mediana de edad de 22,7 años: 22 son deleciones, 27 presentan antecedente de epilepsia y 13 están en tratamiento con, al menos, dos fármacos antiepilépticos. Las comorbilidades más frecuentes después de la epilepsia fueron los síntomas psiquiátricos, la escoliosis, el sobrepeso, el estreñimiento y problemas oftalmológicos. El 40% precisó ingresos hospitalarios en la edad adulta, cinco están institucionalizados y 24 reciben terapias no médicas. El médico a cargo es el neurólogo en la mayoría, seguido del neuropediatra. Conclusiones. Es necesario realizar estudios de historia natural más allá de la infancia. Ésta es la primera revisión española de adultos con SA que recoge un amplio espectro de condiciones sociales y médicas de estos pacientes.

Clinical utility of a personalized and long-term monitoring device for Parkinson's disease in a real clinical practice setting: An expert opinion survey on STAT-ON™.

BACKGROUND: STAT-ON™ is an objective tool that registers ON-OFF fluctuations making possible to know the state of the patient at every moment of the day in normal life. Our aim was to analyze the opinion of different Parkinson's disease experts about the STAT-ON™ tool after using the device in a real clinical practice setting (RCPS). METHODS: STAT-ON™ was provided by the Company Sense4Care to Spanish neurologists for using it in a RCPS. Each neurologist had the device for at least three months and could use it in PD patients at his/her own discretion. In February 2020, a survey with 30 questions was sent to all participants. RESULTS: Two thirds of neurologists (53.8% females; mean age 44.9±9 years old) worked in a Movement Disorders Unit, the average experience in PD was 16±6.9 years, and 40.7% of them had previously used other devices. A total of 119 evaluations were performed in 114 patients (range 2-9 by neurologist; mean 4.5±2.3). STAT-ON™ was considered "quite" to "very useful" by 74% of the neurologists with an overall opinion of 6.9±1.7 (0, worst; 10, best). STAT-ON™ was considered better than diaries by 70.3% of neurologists and a useful tool for the identification of patients with advanced PD by 81.5%. Proper identification of freezing of gait episodes and falls were frequent limitations reported. CONCLUSION: STAT-ON™ could be a useful device for using in PD patients in clinical practice.

Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort.

The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson's disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose.