Every person diagnosed with Phelan-McDermid Syndrome is different; caregivers are faced with making choices, often on a daily basis, on which path to take to create the best life possible for their loved one. Information and support are often difficult to find, especially in the rare disease community. Sometimes, it seems there is TOO MUCH information, making it difficult to know where to start and what to embrace.
PMS Pathways Education Series is designed to assist caregivers by providing educational resources to assist with making life choices for a child or adult diagnosed with Phelan-McDermid Syndrome. We have combined an array of print resources and web links with webinars, podcasts, and family stories to build a comprehensive body of information to help with quality of life choices about health, involvement in research, education, legal and financial planning and more.
To our caregivers who are faced with weighing uncertain choices, making difficult decisions, and taking leaps of faith, we say, “you are not alone”. Though we are each ultimately alone in our decisions, PMS families are also part of a united group, willing to support one another. These topics were chosen for our families in the hope that they will open doors, open minds, open hearts and provide ideas for caregivers as you write your own life’s story; may you find happiness and joy along the way!
If you have questions or suggestions, contact us.
Cecilia Bennett was diagnosed with PMS at 14 months. She struggled with using words or signs to communicate. Her speech/language team took a different approach.
Problems such as constipation and cyclic vomiting syndrome are much more common in PMS. Thankfully, the approach to these problems is similar to neurotypical patients, but often need to be modified to what works based on the patient’s neurodevelopmental level.
The webinar will cover some preliminary findings from Dr. Kohlenberg’s “Story Project,” describing challenges faced by adults with PMS and a new resource to help patients with neuropsychiatric and behavioral problems. The webinar will also cover the importance of research across the entire lifespan of people with PMS and will include information about how adults with PMS can participate in research.
Join Amy Laurent, Ph.D., OTR/L will introduce the SCERTS model, a comprehensive, multidisciplinary educational approach designed for children with social communication and emotional regulatory challenges. This framework is not exclusionary of other treatment approaches and methodologies, but rather provides a curriculum for those who are seeking guidelines for implementing a comprehensive educational plan that is based on our knowledge of the core developmental challenges faced by children with neurodevelopmental disorders, family-centered care, and recommended tenets of educational programming, as indicated by the National Academy of Sciences.
Join Amy Laurent, Ph.D., OTR/L, a developmental psychologist and registered pediatric occupational therapist, for a webinar on a brief review of the core social communicative and emotional regulatory developmental challenges at various stages in development (i.e., pre-verbal stages, emerging language stages, and conversational stages). This introduction of regulatory challenges and social communicative difficulties will then be followed by a discussion of the interplay between these areas and their impact on an individual’s social communicative competence. This relationship will be addressed from both a developmental standpoint, as well as a situational one. In addition, brief practical guidelines for prioritizing the support of emotional regulation for individuals with Phelan-McDermid Syndrome across a wide developmental range will be discussed. Emphasis will be placed on supports that can be used proactively and reactively will be discussed.
Join Amy Laurent, Ph.D., OTR/L, a developmental psychologist and a registered pediatric occupational therapist, for the last in a series of three webinars about the SCERTS model. This webinar will focus on collaboration between families and professionals. Practical strategies for and the importance of such collaboration will be discussed.