A feasibility study of enhanced occupational therapy for children and young people with central nervous system tumours – outcomes for the families and for occupational therapy

A two-year feasibility study was conducted to explore harmonisation of occupation-focused practice between two UK children’s cancer centres. The Short Child Occupational Profile (SCOPE) identified occupational needs of children with brain tumours to inform goal-setting, treatment-planning and intervention. A professional decision-making log was developed to focus reflection and to enhance communication of clinical decisions. The impact of a range of personal and environmental factors on participation beyond performance components was considered, enabling the occupational therapists to incorporate the child’s strengths to overcome daily occupational challenges. Twenty-four children aged 3-14 years with central nervous system tumours received enhanced occupational therapy for six months which families perceived as being helpful in rehabilitating children to participate in life and equipping them with better coping strategies for the future. Individual occupational needs of children were highlighted using the SCOPE which helped to standardise practice. Using the SCOPE harmonised occupational therapists’ unique focus on occupation in their practice with patients with brain tumours. This both evidenced intervention outcomes and strengthened professional identity. The outcome was robust preparation for a multi-centre intervention study. Keywords Occupational therapy, children, brain tumour, harmonised practice, SCOP

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

Purpose We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods Two large databases of individuals fulfilling NF2 criteria (n = 1361) and those tested for NF2 variants with criteria short of diagnosis (n = 1416) were interrogated. We assessed the proportions meeting each diagnostic criterion with constitutional or mosaic NF2 variants and the positive predictive value (PPV) with regard to definite diagnosis. Results There was no evidence for usefulness of old criteria “glioma“ or “neurofibroma.” “Ependymoma” had 100% PPV and high levels of confirmed NF2 diagnosis (67.7%). Those with bilateral vestibular schwannoma (VS) alone aged ≥60 years had the lowest confirmation rate (6.6%) and reduced PPV (80%). Siblings as a first-degree relative, without an affected parent, had 0% PPV. All three individuals with unilateral VS and an affected sibling were proven not to have NF2. The biggest overlap was with LZTR1-associated schwannomatosis. In this category, seven individuals with unilateral VS plus ≥2 nondermal schwannomas reduced PPV to 67%. Conclusions The present study confirms important deficiencies in NF2 diagnostic criteria. The term “glioma” should be dropped and replaced by “ependymoma.” Similarly “neurofibroma” should be removed. Dropping “sibling” from first-degree relatives should be considered and testing of LZTR1 should be recommended for unilateral VS