Vaccinations: données préliminaires sur 16 patients italiens

Vaccinations in Cornelia de Lange Syndrome: preliminary data on 16 italian patients


As it’s well known from common clinical practice, disabled children are at risk of being not properly vaccinated or receiving common vaccinations with some delay in comparison with general population 1 2 3 4. These data in medical literature are quite evident for cerebral palsy but few studies has been performed in syndromic patients. In particular no specific data are available regarding Cornelia de Lange Syndrome patients. 5 6


Within a larger survey on vaccinations’ status in children with syndromes, we had the opportunity to collect data from 16 patients with Cornelia de Lange Syndrome (CdLS). The survey we organized was based on a web questionnaire that parents can anonymously complete at home. The parents received the invitation to fill in the questionnaire through the Italian National Association.


Our cohort includes 16 patients, 7 males, 9 females, with a mean age of 14.9 years. We did not ask information regarding mutational status, while we know that 7/16 (44%) had a severe intellectual impairment, 4/16 (25%) a moderate delay and 5/16 (31%) a mild intellectual disability.
Only 12/16 (75%) succeeded in having a complete vaccination program while 25% were only  partially vaccinated. 

In particular, vaccinations against Poliomielitis, Diphtheria, Pertussis and B Hepatitis were fully administrated in all patients, although some with a meaningful delay (less than 50% within the usual 12 months). The coverage of the first administration of Measles, Mumps, Rubella was quite high but also obtained with delays  (only 58% within 24 months of age). For the others vaccines, part of the Italian national calendar the level of coverage was quite low: Haemophilus  63%, Pneumococcus 58%, Meningococcus type C 55%, Chickenpox 31%.
No major side effects have been described in vaccinated patients while in 1 case a febrile seizure has been observed.
Regarding Papilloma virus vaccinations, only 2 patients were vaccinated (20%). The great majority of parents (41%) were not convinced about the utility of this kind of vaccination for their child, some of them consider the vaccine itself unsafe (7%) or the age of administration too low (7%), 21% disagree with this kind of vaccination and only 21% agree with HPV vaccination but their child was too much young
Generally speaking, parents did not express particular worries regarding vaccinations in their child nor particular negative feelings against vaccinations in general. None reported to have received negative advices from professionals related to vaccinations of their children.


Our results confirm that patients with CdLS can be at risk of delay/ incomplete vaccinations. The collected data also show that these patients have no major complications following vaccinations.
The biggest limitation of our study is related to the smallness of our cohort; for this reason it would be interesting to collect data from a greater number of patients also coming from different countries 

  1. ^ Barberin I, Tiralongo V, Marseglia L. Vaccination risks in children with rare diseases. Italian Journal of Pediatrics. 2015; 41(Suppl 2):A5
  2. ^ Takuya Tanabe, Tetsuzo Tagawa, Hiroshi Arai, Hidenori Imaishi, Risa Uno, Junko Tanaka, Toshisaburou Nagai, Masaru Nishida, Yutaka Awaya, Kihei Maekawa. Survey of Japanese pediatricians on vaccination of children with neurological disorder. Pediatrics International. 2011; 53: 626–629.
  3. ^ Tillmann BU, Tillmann H-C, Heininger U, Lütschg J, Weber P. Acceptance and timeliness of standard vaccination in children with chronic neurological deficits in north-western Switzerland. Eur J Pediatr 2005;164(5):320–5.
  4. ^ Pandolfi E, Carloni E, Marino M G, Ciofi degli Atti M L, Gesualdo F, Romano M, Giannattasio A, Guarino A, Carloni r, Borgia P, Volpe E, Perrelli F, Pizzuti R, Tozzi A E. Immunization coverage and timeliness of vaccination in Italian children with chronic disease. Vaccine. 2012 (30): 5172-5178
  5. ^ Walkera E J, MacDonald N E, Islamd N, Le Sauxe N, Top K A, Fel D B. Completeness and timeliness of diphtheria-tetanus-pertussis, measles-mumps-rubella, and polio vaccines in young children with chronic health conditions: A systematic review. Vaccine 37 (2019) 1725–1735.
  6. ^ Esposito S, Cerutti M, Milani D, Menni F, Principi N. Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines. Human Vaccines & Immunotherapeutics. 2016; 12 (3): 801–805.
Gerritjan Koekkoek

Posted by

Page history
Last modified by Gerritjan Koekkoek on 2023/04/18 17:01
Created by Gerritjan Koekkoek on 2023/04/18 16:58

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: