Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.

Pathogenic variants in the IRF2BPL gene are associated with neurodevelopmental disorders with varying degrees of regression, loss of speech and epilepsy. The phenotype is also known as Neurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures (NEDAMSS). The motor symptoms of this disorder share significant phenotypical characteristics with catatonia, a severe neuropsychiatric psychomotor syndrome. The objective of this article is to expand the knowledge on the presentation of NEDAMSS with a focus on psychiatric symptoms including catatonia. A systematic review of 32 case presentations of NEDAMSS, and a novel case report of a patient with NEDAMSS, exhibiting multiple psychiatric symptoms, including catatonia are presented. Psychiatric symptoms and disorders including affective disorders, psychotic symptoms, catatonia, and developmental disorders are reported in one third of the reviewed cases. Reported effects of pharmacological treatment on motor symptoms of NEDAMSS are very limited. Our case presents improvement in motor symptoms originally attributed to NEDAMSS, after treatment with Lorazepam following diagnosis with catatonia. Patients with NEDAMSS may present with both neurological and psychiatric symptoms. The clinical presentation of NEDAMSS motor symptoms and catatonia have similarities and thus poses significant challenges to the diagnostic process, with risk of incorrect or delayed treatment. The limited experience and the complex phenotype of NEDAMSS complicates pharmacological treatment and encourages caution, especially with the use of antipsychotic drugs in the presence of possible catatonic symptoms.

Pandemic life in families with health anxiety symptoms, parental perspectives.

Background: The covid-19 pandemic has influenced children and parents worldwide. The pandemic has also been suggested to especially affect and exacerbate health anxiety (HA) symptoms in children and adolescents. However, there is limited understanding of the potential mechanisms challenges of families where parents themselves experience mental health issues such as high degree of HA symptoms. Objective: The aim of this study was to explore parental experiences of pandemic life in families with continuously high levels of HA symptoms during the covid-19 pandemic. Method: Six parents, identified with high levels of HA symptoms, participated in qualitative individual semi-structured interviews. Interviews were analysed according to Interpretative Phenomenological Analysis principles. Results: Three main themes emerged. Theme 1) "Anxious children in a pandemic world" explores how pandemic - independent child factors including anxious temperament may have influenced the child pandemic experience. Theme 2) "Parental influences on child anxiety" describes parental reflections on their possible influence on child anxious thoughts. Theme 3) "Living with pandemic guidelines and restrictions" demonstrates the varying parental experiences of interventions and how these may affect HA thoughts. Conclusion: Parents who themselves experience HA symptoms see their children, who also experience HA symptoms, to be particularly susceptible and vulnerable to both content and rhetoric of pandemic information. These children may however, experience school lockdown to be anxiety relieving. Parents who themselves have illness-related fears may not see themselves as perpetuating for their child's anxious thoughts.

Health anxiety by proxy - through the eyes of the parents.

Health anxiety by proxy is a newly described phenomenon where parents worry excessively that their child suffers from a serious illness. In a former study, six parents with distressing worries about their child's health were interviewed to develop the Health Anxiety by Proxy Scale. The present study is a secondary analysis of these semi-structured interview data using interpretative phenomenological analysis aiming to explore for the first time the lived experience of parents with health anxiety by proxy. Analysis revealed three main themes: 'Faces of distress' describing various aspects of parents' experienced distress; 'Invasive insecurity and mistrust' portraying how anxiety affects parents' relationship with their children, health professionals and family; and 'Making sense of own worries' covering parents' ambivalence regarding their anxiety and rationalization of their worries. Knowledge about perspectives of parents who suffer from health anxiety by proxy can inform communication in clinical encounters where validation of parents' experiences may be key to forging an alliance for further treatment; and to recognising and potentially lowering barriers to receiving help that lies in parents' potential mistrust in professional help.

'I can hardly breathe': Exploring the parental experience of having a child with a functional disorder.

Functional disorders in children and adolescents are common. Still, little is known about parents' experience of having a child with a functional disorder. The aim of this qualitative interview study was to explore challenges encountered by parents caring for a child undergoing treatment for functional disorder. Sixteen parents to children with functional disorders were interviewed when their child was referred from a paediatric department for further specialized treatment with family therapy in child and adolescent mental health services. Analysis identified three themes, reflecting the parental experiences: parents in limbo, which described how limited knowledge about functional disorders among professionals in non-specialized settings influenced parental roles; a counterintuitive kind of caring, describing parental struggles with adhering to treatment recommendations for functional disorders; and challenges to parental identity, describing parental emotional challenges. These challenges may bar the acceptance of psychological treatment approaches in families with a child with functional disorders.

Illness perceptions of youths with functional disorders and their parents: An interpretative phenomenological analysis study.

BACKGROUND: Functional disorders, defined as disorders with no clear medical explanation, are common and impose a significant burden on youths, their families, healthcare services and society as a whole. Currently, the literature describes resistance among patients and their families towards psychological symptom explanations and treatments. More knowledge about the thoughts and understandings of youths with functional disorders and their parents is needed. The aim of this study was to explore the illness perceptions of youths with severe functional disorders and their parents. METHODS: A qualitative interview study using interpretative phenomenological analyses. The study included 11 youths aged 11-15 years with functional disorders and their parents, where interviews were performed at the point of referral from a somatic to a psychiatric treatment setting. RESULTS: Analyses identified three main themes. Themes 1(Ascribing identity to the disorder) and 2 (Monocausal explanations) explore key elements of the participants' illness perceptions, and theme 3 (Mutable illness perceptions) explores how illness perceptions are influenced by experiences from healthcare encounters. CONCLUSIONS: The label 'functional disorder' was poorly integrated in the illness perceptions of the youths and their parents. Participants used a monocausal and typically physical explanation rather than a multicausal biopsychosocial explanation for their symptoms.