Home > Diagnoses & Conditions > Cornelia de Lange Syndrome > Ongoing Assessment
Cornelia de Lange Syndrome - Ongoing Assessment
Overview
Children with Cornelia DeLange syndrome (CdLS) will need ongoing assessment in a number of areas, including:- Growth
- Development
- Hearing, at diagnosis and every few years
- Vision, at diagnosis and annually
- Gastrointestinal, for malformation risk and gastroesophageal reflux disease (GERD)
- Genetics, particularly if parents are contemplating additional children
- Dental
- Behavior, as needed
Screening
Children with CdLS should be screened for malrotation, GERD, and hearing and vision abnormalities.Pearls And Alerts
Because intestinal volvulus is relatively common in children with CdLS, acute abdominal pain, abdominal distention, and/or bilious emesis should prompt immediate evaluation for obstruction. If a child is gastrostomy tube dependent and there are significant feeding difficulties or high volume gastric fluid output, obstruction should also be considered. Families should be given information about this potential problem.
Severe esophageal reflux (GERD) or reflux esophagitis may cause unusual posturing movements of the head and neck, called Sandifer syndrome.
Children with CdLS have decreased growth but should follow a predictable pattern. Plotting height, weight, and head circumference on CdLS-specific growth charts (see Growth and development charts for children with CdLS (CdLS Foundation)) may be helpful. If children stray markedly from their usual pattern or from these charts, consider other problems, such as decreased thyroid or growth hormone levels.
Middle ear effusion and sensorineural hearing loss are both observed. Consider an ENT evaluation if a middle ear effusion is present, as this may be causing hearing loss in children who already have delays in speech and language.
History And Examination
Interim History
Pay particular attention to symptoms that might suggest gastroesophageal reflux (GERD), such as food refusal, abdominal pain, dental abnormalities, vomiting, and weight loss.Developmental and Educational Progress
Be alert to slowing of the developmental trajectory and to behavior problems that may arise as the child approaches adolescence. Ask families to bring early intervention and school progress reports. See Growth and development charts for children with CdLS (CdLS Foundation) for expected developmental milestones for children with CdLS.Social and Family Functioning
Assess social functioning of the child and family. Behavior problems may appear suddenly or worsen in adolescence.Physical Exam
Growth Parameters
Ht | Wt | OFC | BMI Should be measured and plotted on CdLS-specific growth charts (Growth and development charts for children with CdLS (CdLS Foundation))Testing
Sensory Testing
Refer for ophthalmological and audiological testing annually or as indicated. Children with CdLS often experience worsening in their hearing over time.Other Testing
Evaluation, or re-evaluation, for GERD when indicated, with EGD or esophageal pH probe.Consider dual energy x-ray absorptiometry (DXA) or bone densitometry for osteoporosis in adolescents with CdLS.
A modified barium swallow study (MBS) to rule out primary or secondary aspiration may be useful in children with poor weight gain, oral aversion, coughing or choking with eating, and/or other feeding difficulties.
Subspecialist Collaborations and Other Resources
Pediatric Gastroenterology (see Services below for relevant providers)
Periodic evaluation by a pediatric gastroenterologist may be helpful, particularly if there are GI or growth-related problems
Pediatric Medical Genetics (see Services below for relevant providers)
Periodic referral to a geneticist may be helpful in guiding ongoing assessments
Pediatric Orthopedics (see Services below for relevant providers)
Difficulty with walking, pain, or suspected scoliosis may warrant a referral to orthopedics
Pediatric Ophthalmology (see Services below for relevant providers)
Periodic evaluation by a pediatric ophthalmologist is recommended.
Audiology (see Services below for relevant providers)
Periodic evaluations may detect hearing loss earlier than would otherwise be possible
Pediatric Otolaryngology (see Services below for relevant providers)
Consider an ENT evaluation for possible PE tube insertion for children with middle ear effusions that may be adding to hearing loss and/or speech/language delays.
Pediatric Dentistry (see Services below for relevant providers)
Children with CdLS may have anatomical abnormalities (small, widely spaced teeth, micognathia) and GERD that affect their teeth. Evaluation by a pediatric dentist is recommended at approximately 6 month intervals.
Child Psychology (see Services below for relevant providers)
Behavioral assessment may be helpful, particularly for ADHD symptoms, self-injurious behavior, etc.
Pediatric Sleep Medicine (see Services below for relevant providers)
Consider a sleep medicine evaluation if the child is experiencing sleep disturbance.
Resources
Information & Support
For Parents and Patients
General
Cornelia de Lange syndrome (Genetics Home Reference)
Excellent, detailed review of the genetic aspects of Conelia de Lange syndrome, aimed at patients and families from the National
Library of Medicine's Genetics Home Reference site.
Practice Guidelines
44 KB)
) based on the following article. These guidelines represent expert clinical opinion regarding the management of CdLS.
Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A.
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
Am J Med Genet A.
2007;143A(12):1287-96.
PubMed abstract
Patient Education
Tools
Growth and development charts for children with CdLS (CdLS Foundation)
See growth and development charts approximately halfway down the page under the subtitle Articles About CdLS and then the
subtitle Development.
Services
Pediatric Gastroenterology
See all Pediatric Gastroenterology services providers (2) in our database.
Pediatric Medical Genetics
See all Pediatric Medical Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
Olioso G, Passarini A, Atzeri F, Milani D, Cereda A, Cerutti M, Maitz S, Menni F, Selicorni A.
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.
Am J Med Genet A.
2009;149A(11):2532-7.
PubMed abstract
Theile AR, Gowans G.
Cornelia de Lange Syndrome: a case report with clinical review and recommended anticipatory guidance for the general practitioner.
J Ky Med Assoc.
2009;107(9):351-4.
PubMed abstract
Wulffaert J, van Berckelaer-Onnes I, Kroonenberg P, Scholte E, Bhuiyan Z, Hennekam R.
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange
syndrome.
J Intellect Disabil Res.
2009;53(7):604-19.
PubMed abstract
Authors
| Authors: | Molly O'Gorman MD, 7/2009 Lynne M Kerr MD, PhD, 3/2009 Antonie Kline MD, 3/2009 |
| Content Last Updated: | 11/2009 |