The goal of transitioning from pediatric to adult healthcare services is to maximize lifelong functioning and potential through the provisions of high quality, developmentally appropriate healthcare services — services remain uninterrupted as the individual moves from adolescence to adulthood (Institute of Medicine US Committee on Disability in America, 2007).

It should also be noted: a smooth transition does not result from the mere physical pediatric to adult healthcare transfer, but rather the consideration and incorporation of the young adult’s physical, psychological, and social development (Crowley, Wolfe, and McKee, 2011).


The transition from pediatric to adult healthcare is a critical stage of life for all individuals involved. This time period can present many factors that can drastically change the daily lives of both the young adult and their family. As a result, the transition period may be an especially stressful time. As a parent or caregivers, it is important to consider using all available tools and resources to make the transition successful and to minimize potential stress (Neece, Kraemer and Blacher, 2009).

For some parents or caregivers of young adults with CdLS who have severe intellectual disabilities, little change may occur in the caregiving tasks as the child grows into an adult. However, both legal and changing medical needs in adulthood will require parents or caregivers to assume new responsibilities as the young adult begins the healthcare transition process.

In addition to the healthcare transfer, some parents or caregivers may also take part in changes such as moving youth to adult daycare facilities, or moving out of the home to a group home environment or other residential care (Bindels-de Hess, 2013). Collaboration with the young adult, the family, the service provider(s), and the community will be beneficial in creating meaningful outcomes for all who are involved in any transition.

Although CdLS was originally described in the early 1900’s, the syndrome has been well characterized only during the last quarter of the century. Many individuals with CdLS, diagnosed when they were infants, are now entering into adulthood. A large number of families and caregivers, therefore, have multiple questions about both the physical and mental changes that will occur during puberty, adolescence and adulthood. Previously, our answers as healthcare providers had been based on personal experiences with individual adult patients of different ages. There are few publications addressing adolescent and young adulthood issues for any genetic syndrome, although these are of great interest to both primary care providers and geneticists.

In the past several years we have collected specific information about puberty and adolescence from families, as part of an ongoing global project to evaluate aging in CdLS. A puberty questionnaire was originally distributed to member families of the CdLS Foundation through the USA office eight years ago. Seventy‐four have been evaluated for this part of the aging project, and the collated results follow.

There were almost twice as many surveys received on females than on males. Both males and females experienced worsening gastroesophageal reflux during adolescence, often requiring treatment. Sixty percent reported circulation problems with their hands and/or feet. Other medically related issues include scoliosis (curvature of the spine), nasal polyps (growth in the nose), seizures, and psychiatric disorders. Of the responses received, the average age of puberty onset was 13 years in females and 14 years in males, both slightly later than in unaffected children.

There was a growth spurt reported during puberty in both height (in 40% of the females and half of the males) and weight (in 60% of the females, and in 40% of the males). Pubic hair developed in most of the individuals (in 85% of the females and 90% of the males); however axillary hair (under the arms) was infrequent (in 20% of the females and 35% of the males).

Of the survey answers received on the females with CdLS, 80% reported breast development, and only 75% ever “got” their period. Premenstrual syndrome was common; irregularity of the periods was present but less common. Various treatments for menstruation included, with varying degrees of success: hysterectomy, hormonal replacement (e.g. taking hormones via a pill), and gynecology procedures.

Of the surveys received on the males with CdLS, two‐thirds reported facial hair, and half had increased size of genitalia (penis, testicles).

Three‐quarters of the surveys discussed that behavioral issues were very common and worsened with the onset of puberty. Thirty‐eight percent reported moodiness, 25% had obsessivecompulsive disorder. Other behavioral concerns included change in sleep patterns and masturbation. Management of these issues provides the most difficult challenge to the caregivers.






Trouvez d'autres pages qui partagent le même sujet que cette page. Soins médicaux de la transition7
Tonie Kline

Medical Director, CdLS Foundation

History des pages
Modifié par Gerritjan Koekkoek le 2022/05/31 16:03
Créé par Gerritjan Koekkoek le 2021/11/01 11:18

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