A qualitative study of adolescents and young adults' experience and perceived needs during the first wave of the COVID-19 pandemic.

AIMS: COVID-19 has led to unprecedented public health measures such as school and university closures across the world. While initial surveys show an increase in anxiety, we have little information on the subjective experience of adolescents and young adults (AYAs). The aims of this study were to understand the lived experience and needs of AYAs related to home confinement and preventive measures due to COVID-19. DEMOGRAPHICS AND SETTINGS: A total of 25 AYAs (13-24 years old) with diverse gender, age, or health conditions, living in Québec (Canada), were interviewed in May 2020, during the COVID-19 home confinement period. METHODOLOGY: Four virtual focus groups were held via a virtual video-conferencing platform (Zoom©). Thematic analysis was conducted. RESULTS: Thematic analysis revealed five main themes: (1) challenges and opportunities related to the experience of home confinement; (2) variable risk perception of COVID-19 infection; (3) development of coping strategies to maintain well-being; (4) need for information and accompaniment; (5) apprehensions related to perceptions of the future. CONCLUSION: AYAs did not feel considered in public health decisions, fostering an increase in anxiety, especially in more vulnerable AYAs living with chronic diseases.

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. Because of the COVID-19 pandemic, many health care services were suspended, delayed or delivered remotely with telemedicine. We sought to explore the experience of parents of children with genetically determined leukoencephalopathies during the pandemic given the adapted health care services. We conducted semistructured interviews with 13 parents of 13 affected children. Three main themes were identified using thematic analysis: perceived impact of COVID-19 on health care services, benefits and challenges of telemedicine, and expectations of health care after the pandemic. Parents perceived a loss/delay in health care services while having a positive response to telemedicine. Parents wished telemedicine would remain in their care after the pandemic. This is the first study assessing the impact of COVID-19 on health care services in this population. Our results suggest that parents experience a higher level of stress owing to the shortage of services and the children's vulnerability.

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

BACKGROUND AND OBJECTIVES: MCT8 deficiency is a rare genetic leukoencephalopathy caused by a defect of thyroid hormone transport across cell membranes, particularly through blood brain barrier and into neural cells. It is characterized by a complex neurological presentation, signs of peripheral thyrotoxicosis and cerebral hypothyroidism. Movement disorders (MDs) have been frequently mentioned in this condition, but not systematically studied. METHODS: Each patient recruited was video-recorded during a routine outpatient visit according to a predefined protocol. The presence and the type of MDs were evaluated. The type of MD was blindly scored by two child neurologists experts in inherited white matter diseases and in MD. Dystonia was scored according to Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). When more than one MD was present, the predominant one was scored. RESULTS: 27 patients were included through a multicenter collaboration. In many cases we saw a combination of different MDs. Hypokinesia was present in 25/27 patients and was the predominant MD in 19. It was often associated with hypomimia and global hypotonia. Dystonia was observed in 25/27 patients, however, in a minority of cases (5) it was deemed the predominant MD. In eleven patients, exaggerated startle reactions and/or other paroxysmal non-epileptic events were observed. CONCLUSION: MDs are frequent clinical features of MCT8 deficiency, possibly related to the important role of thyroid hormones in brain development and functioning of normal dopaminergic circuits of the basal ganglia. Dystonia is common, but usually mild to moderate in severity, while hypokinesia was the predominant MD in the majority of patients.