Apert syndrome is a rare and complex condition, requiring surgical intervention and long-term medical management. Navigating healthcare and support services can be challenging for individuals with Apert syndrome and overwhelming for caregivers. Being “different” can also affect social experiences and psychological well-being across the lifespan. The goals of this chapter are to outline the physical, neurodevelopmental, and behavioral aspects of Apert syndrome, and to describe the psychosocial impacts of the condition and its treatment on affected individuals and their families. Since the literature on the psychosocial characteristics and impact of Apert syndrome is scarce, the authors have drawn on literature from the wider craniofacial field, as well as literature focused on chronic illness and rare conditions more broadly. This chapter will offer strategies that health providers can implement into routine practice to facilitate psychosocial well-being among the patients and families they see, in addition to screening tools and specific evidence-based psychosocial interventions. The utility of a behavioral phenotype to guide clinical practice will also be considered. Finally, this chapter will provide directions for future research to develop the evidence base necessary to inform optimal person-centered care.

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Social and Psychological Impacts and Recommendations

  • Nicola M. Stock,
  • Matthew L. Speltz,
  • Kathleen A. Kapp-Simon

摘要

Apert syndrome is a rare and complex condition, requiring surgical intervention and long-term medical management. Navigating healthcare and support services can be challenging for individuals with Apert syndrome and overwhelming for caregivers. Being “different” can also affect social experiences and psychological well-being across the lifespan. The goals of this chapter are to outline the physical, neurodevelopmental, and behavioral aspects of Apert syndrome, and to describe the psychosocial impacts of the condition and its treatment on affected individuals and their families. Since the literature on the psychosocial characteristics and impact of Apert syndrome is scarce, the authors have drawn on literature from the wider craniofacial field, as well as literature focused on chronic illness and rare conditions more broadly. This chapter will offer strategies that health providers can implement into routine practice to facilitate psychosocial well-being among the patients and families they see, in addition to screening tools and specific evidence-based psychosocial interventions. The utility of a behavioral phenotype to guide clinical practice will also be considered. Finally, this chapter will provide directions for future research to develop the evidence base necessary to inform optimal person-centered care.