The Importance of School Leadership Support when Working with Students with Smith-Magenis Syndrome–A Q Methodology Study

Smith-Magenis syndrome (SMS) is a rare genetic syndrome. Students with SMS have a neurobehavioural phenotype which has been characterised as challenging for both parents and teachers. Challenging behaviour often has a negative impact on the person’s learning ability and is a hindrance in the learning environment. Challenging behaviour also impacts on teachers in terms of stress and burnout. The aim of this study was to explore what type of support the school staff needs in order to handle the challenging behaviour and academic development of students with SMS using Q methodology. Fourteen staff members working with students with SMS in Norway participated in the study by sorting 40 statements according to the Q methodology. The sorting was analysed based on the by-person factor analysis. Four viewpoints were identified as follows: 1) In control, 2) struggling, 3) Strugglers relying on parents, and 4) Support dependent. Several consensus statements were associated with the academic work of the students with SMS. The consensus statements regarding academic work showed that this is not a priority for these students. Support from the school’s leadership and colleagues is imperative, in addition to cooperation from parents, to provide safe and productive school environments for children with SMS.publishedVersio

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

Behavioural phenotype of Smith-Magenis Syndrome (SMS) : Individual characteristics and parental and school staff's experiences

Smith-Magenis’ syndrom er en sjelden og kompleks genetisk tilstand. Det anslås at rundt 1 av 15.000-25.000 levendefødte barn har diagnosen, og i Norge vet vi om ca 40-50 kjente tilfeller. Denne studien søker å bringe ny kunnskap om atferd hos personer med Smith-Magenis’ syndrom, både i pedagogiske miljøer og i hjemmet, ved å inkludere både skolepersonalet og foreldrenes erfaringer med personer med Smith Magenis’ syndrom. Målet med doktoravhandlingen er å utforske utfordrende atferd knyttet til en sjelden diagnose, for å forstå hvordan og hvorfor atferden oppstår. Smith-Magenis syndrom medfører utviklingshemning, medfødte misdannelser, overvekt, nevroutviklingsforstyrrelser og en forstyrret døgnrytme. Men i tillegg har barn og voksne med Smith Magenis’ syndrom ofte karakteristiske egenskaper som er spesielt utfordrende for både foreldre og fagfolk. Disse inkluderer søvnforstyrrelser, selvskading og utfordrende atferd, stereotypier og sensoriske utfordringer. For å utforske utfordrende atferd hos personer med en sjelden diagnose, benytter studien en kombinasjon av ulike tilnærminger karakterisert som en multimetodedesign. Doktorgradsavhandlingen inneholder kvalitative og kvantitative metoder, samt Q-metode. I studien deltar foreldrene til 36 personer med Smith Magenis’ syndrom i aldersspennet 1,5 til 50 år. Totalt 18 av personene var fra Norge, 13 fra Sverige og 5 fra Danmark. Det første målet med denne doktorgradsavhandlingen er å utforske karakteristikkene til personer med Smith Magenis’ syndrom i den skandinaviske befolkningen, og forholdet mellom de ulike spesifikke egenskapene. De to mest interessante funnene i disse to artiklene er at autismespektervansker hos personer med Smith Magenis’ syndrom forekommer oftere hos kvinner enn menn, som er motsatt av resten av befolkningen, og at det er en nedgang i atferdsmessige og emosjonelle vansker med alderen. Det andre målet med doktorgradsavhandlingen er å undersøke erfaringene blant skolens ansatte og hvordan skolens ansatte håndterer den utfordrende atferden til personer med Smith Magenis’ syndrom. For skolepersonalet ser det ut som om ikke-utagerende atferd oppleves mer utfordrende enn utagerende atferd. Støtte fra skolens ledelse er også spesielt viktig når man arbeider med elever med Smith Magenis’ syndrom. Den siste målsetningen med denne avhandlingen tar for seg foreldrenes erfaringer med å ha et barn med Smith Magenis Syndrom, med fokus på utfordrende atferd. Foreldrene har en opplevelse av å bli misforstått av fagfolk, og opplever at den utfordrendene atferden øker fordi det er noen spesifikke karakteristikker av Smith Magenis’ syndrom som fagfolk ikke er klar over eller ikke tar hensyn til i sine hjelpetjenester. Bruken av en multimetodedesign og data fra ulike kilder har gitt mulighet til å utforske utfordrende atferd ved Smith Magenis’ syndrom fra ulike perspektiver. Dette har vært nyttig, og ny kunnskap har blitt funnet ved å utforske det samme emnet med flere metoder og på tvers av ulike informanter (skoleansatte og foreldre) og i ulike situasjoner (hjem og skole)

Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence

The experience of having a rare disorder was summarised in a large study as ‘falling outside the vast field of knowledge of the professionals’. Parents (31 mothers and 17 fathers) of 32 persons with Smith–Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes emerged: behavioural challenges displayed, parents’ strategies for meeting the challenging behaviours, parents’ experiences of their own competence and parents’ experiences of professionals’ competence and understanding regarding children with SMS and their behaviour challenges. We found that parents of children with SMS experience that they are exposed to severe challenging behaviours from their child. The parents believe that they experience more misunderstandings with professionals and that the challenging behaviours increase because there are some specific characteristics of SMS that professionals are not aware of or do not consider in their support services.publishedVersio

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD). Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population. Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. The disorder is characterised by intellectual disability, multiple congenital anomalies, obesity, neurobehavioural abnormalities and a disrupted circadian sleep-wake pattern. Methods: Parents of 28 persons with SMS between 5 and 50 years old participated in this study. A total of 12 of the persons with SMS were above the age of 18 at the time of the study. A total of 11 came from Sweden and 17 were from Norway. We collected information regarding the number of autism spectrum symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). Adaptive behaviour was also measured using the Vineland Adaptive Behavior Scale II. The level of intellectual disability was derived from a review of the medical chart. Results: We found significant gender differences in ASD symptomatology using the SCQ and SRS questionnaires. We found approximately three females per male above the SCQ cutoff. The same differences were not found in the intellectual level and adaptive behaviour or for behavioural and emotional problems. Gender had an independent contribution in a regression model predicting the total SCQ score, and neither the Vineland Adaptive Behavior Scale II nor the Developmental Behaviour Checklist had an independent contribution to the SCQ scores. Conclusion: We found a clear reversed gender difference in ASD symptomatology in persons with SMS. This may be relevant in the search for female protective factors assumed to explain the male bias in ASD.publishedVersio

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist

Smith–Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age, gender, adaptive behaviour and autism symptomatology. Twenty-eight persons with SMS were represented by their parents in this study. DBC Total scores are reduced with age, but they still show a mean that is clearly above the cut-off of 46. The differences between the age groups <9 years and 9–17 years ( p = 0.024) and between the age groups <9 years and >18 years ( p = 0.007) are significant. We found a significant decrease in behavioural and emotional problems with age in SMS. We did not find a relationship between adapted behaviour and communication and behavioural and emotional problems

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist

Smith–Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age, gender, adaptive behaviour and autism symptomatology. Twenty-eight persons with SMS were represented by their parents in this study. DBC Total scores are reduced with age, but they still show a mean that is clearly above the cut-off of 46. The differences between the age groups 18 years (p = 0.007) are significant. We found a significant decrease in behavioural and emotional problems with age in SMS. We did not find a relationship between adapted behaviour and communication and behavioural and emotional problems