Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses

Abstract

Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits and limitations of a multidisciplinary clinic setting for individuals with CdLS and related diagnoses. Parents of children with CdLS and related diagnoses who have visited a multidisciplinary clinic (N = 52) and who have not visited a multidisciplinary clinic (N = 69) were surveyed to investigate their attitudes. About 90.0% of multispecialty clinic attendees indicated a preference for multidisciplinary care. However, some respondents cited a need for additional clinic services including more opportunity to meet with other specialists (N = 20), such as behavioral health, and increased information about research studies (N = 15). Travel distance and expenses often prevented families' multidisciplinary clinic attendance (N = 41 and N = 35, respectively). Despite identified limitations, these findings contribute to the evidence demonstrating the utility of a multispecialty approach to patient care. This approach ultimately has the potential to not just improve healthcare for individuals with CdLS but for those with medically complex diagnoses in general. © 2016 Wiley Periodicals, Inc.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

“…Access to clinical evaluation, counselling and follow-up by a multidisciplinary team is likely to improve health care and increase quality of life. Recognized barriers to accessing care include health or behavioural complications, geographical isolation and financial considerations [185][186][187] . Individuals with CdLS are now likely to live into adulthood and old age and thus risk developing common chronic diseases in addition to CdLS-related morbidities.…”

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review

“…Molecular genetic testing assists in making a confirmative diagnosis of CdLS. Once the diagnosis is acquired, lifelong medical care and multidisciplinary and social care are urgently needed to improve the patient’s health and increase their quality of life ( 3 , 27 , 28 ). Interdisciplinary management integrates doctors from different disciplines to establish a treatment team, which enables patients with CdLS to be evaluated from different professional perspectives and it proposes syndrome-specific, individualized treatment plans.…”

Intensive Neuromotor Therapy improves motor skills of children with Cornelia de Lange Syndrome: case report

“…In the neurological rehabilitation area, to identify these aspects is not easy. Children with CdLS were recommended to have a multidisciplinary intervention [9,10]. Two studies regarding CdLS [1,6] describe clinical and genetic aspects, with no report of physical therapy for these cases.…”