Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

Abstract

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities. Currently mutations of three different genes, NIPBL, SMC1A, and SMC3, are known to be related to the CdLS phenotype with an overall detection rate of about 50%. Few data are available regarding the level of autonomy in everyday life of CdLS patients. Due to the collaboration of the Italian parents' support group, we collected information regarding clinical and behavioral problems and everyday abilities of 45 CdLS patients between 13 and 39 years, using a specific multi-item questionnaire. To better analyze clinical information we divided our patients into three groups according to age: 13-20, 21-29, and over 30 years. Data from clinical, malformative and behavioral problems were not significantly different from those described for CdLS patients. Regarding personal autonomies this study showed the significant limitations of these individuals. It is interesting to observe that patients between 21 and 29 years, showed the best performance, while those over 30 had more severe difficulties. We suggest that these data be interpreted as a minimum level of autonomy achievable for CdLS adolescent/young adults, as the level of care, rehabilitation and stimulation of these patients has increased in the last 30 years.

Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

“…Hearing loss was reported for many of these patients, with sensorineural hearing loss affecting 40.3% (95% CI: 17.3–63.4), conductive hearing loss affecting 22.7% (95% CI: 5.7–39.7), and mixed or unspecified hearing loss affecting 34.5 (95% CI: 19.3–49.7) (Fig. ) . When hearing loss was present, it was mild in 30.4% (95% CI: 10.8–50.1), moderate in 18.1% (95% CI: 11.3–25.0), moderate to severe in 22.0% (95% CI: 8.4–35.7), severe in 21.9% (95% CI: 13.3–30.7), and profound in 29.4% (95% CI: 16.4–42.3).…”

“…Twenty-five case series reported on otologic manifestations of CdLS (Table II). Hearing loss was reported for many of these patients, with sensorineural hearing loss affecting 40 2,5,[11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] Five case series reported on middle ear anomalies. 19,23,30,32 Ossicular chain anomalies affected 57.2% (42.3-72.1) of patients.…”

Behaviour in Cornelia de Lange syndrome: a systematic review

“…Mutation analyses were performed in six studies (14%). Nine papers mentioned medication use by participants (21%) . Limited specifics were provided regarding medication use, information ranged from ‘numerous medications’ and ‘antipsychotic medication’ to medication used for ‘hyperactivity, sleep problems, or aggressiveness’.…”

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

“…Few studies have investigated the needs and rights of inhomogeneous populations lacking a diagnosis although several studies exist concerning well-defined and homogeneous population such as Down syndrome [27–31], Williams syndrome, Fragile X syndrome, Autism [32, 33], Angelman, Cornelia de Lange [34] and Cri du Chat syndrome [21]. …”