Table 5.

Clinical recommendations for transitional and adult care, based on literature and findings of our study

ICF domain	Screen males for:	Screen females for:	Provide
Impairment of body functions and structures	Physical health • Neurological problems • Gastrointestinal problems • Obesity • Hypertension • Heart-problems • Use of medication and side effects • Abnormal pain perception and presentation • Fatigue • Contraception	Physical health • Gastrointestinal problems • Obesity • Hypertension • Use of medication and side effects • Fatigue • Questions on menstruation regulation, contraception, family planning	Yearly screening by easily accessible FXS-expert, screening on all domains, with organ-specific care when indicated Motivational support e.g. for life-style related issues Close communication between GP, care professionals and FXS-experts
	Mental health • Anxiety • Symptoms of ASD • Symptoms of ADHD • Depressive symptoms • Cognitive and/or adaptive functioning • Somatization	Mental health • Anxiety • Symptoms of ASD • Symptoms of ADHD • Depressive symptoms • Somatization • Cognitive functioning • Executive functioning impairments	Yearly screening for mental health issues Episodic (neuro)psychological evaluation and psycho-education, e.g. at least once per 5 years When indicated: interventions with (non-verbal) behavioral therapies and psychotropic medication Peer groups
Activity limitations and participation restriction	Participation and work • Self-management • Participation • Adequate work or daytime occupation • Friendships • Recreation, exercise Relationships and sexuality • (Romantic) relationships • Sexual development and education • Inappropriate sexual behavior	Participation and work • Self-management • Participation • Adequate work or daytime occupation • Friendships • Recreation, exercise • Social vulnerability Relationships and sexuality • (Romantic) relationships • Sexual development and education • Family planning	Involvement of a social worker to optimize socialization and independence Information and advice for employers and social services Involvement of a job coach for appropriate daytime occupation Discuss issues separately with patients as well as parents/caregivers
Environmental factors	Administrative burden Financial problems Living circumstances Information and knowledge on FXS, also for environment Parental stress Transitional care	Administrative burden Financial problems Living circumstances Information and knowledge on FXS, also in environment Parental stress Transitional care	Involvement of a social worker and/or coach Information on patient organizations Information material Address parental concerns and increase support in daily life through GP, parent support groups, social services or psychologist Involve both parents and young adults in transition process Designated coordinator of the transition process Plan the transitional process timely, preferably at the beginning of adolescence, in collaboration with a FXS expertise center A FXS expertise center should be easily accessible for the patients, as well as for local healthcare providers Patient organizations could facilitate knowledge on care infrastructure, and help provide information to patients, caregivers, employers, and others