Screening for the presence of associated major malformations:

• Clinical evaluation
• Abdominal ultrasound
• Cerebral ultrasound / NMR
• Cardiologic evaluation with echocardiography
• Opthalmologic evaluation
• Hip and upper limb X ray

Screening of associated functional problems:

• Opthalmologic evaluation
• ENT evaluation
• Audiologic evaluation
• Neurologic evaluation (possibly with EEG)

Genetic tests

• Standard karyotype
• Molecular study of NIPBL gene
• Sub-telomeric study / CGH (if molecular test is negative)

Periodical evaluations:

The periodical evaluation should be performed with different frequency at different age of the child

• Between 0- 2 years every 3 months
• Between 2-4 years every 6 months
• Between 4-6 years every year
• Between 6-12 years every 2 years
• Between 12-18 years and over 18 years
• every 3 years

In the first four years of life the clinical evaluation should include a paediatric, auxologic, neurologic and nutritional evaluation. Further tests will be performed according the evidence of specific clinical problems (eyes, sinus, tooth, kidneys, heart etc)

In every case once a year a multidisciplinary evaluation and a blood test should be done.

• Pediatric evaluation
• Auxologic evaluation using the specific growth chart
• Neurologic and developmental evaluation using the Denver test modified
• Gastro-.enterologic paediatric evaluation
• Opthalmologic evaluation
• Stomatologic evaluation
• Orthopedic evaluation

Routine blood test

Emocromocitometric complete test, iron metabolism test including the search for stool blood, complete study of renal function, Calcium metabolism, nutritional status blood test (expecially in the first 4 years of life), urine test.

Specific problems

• Gastro-intestinal problems

It’s very important to have an high index of suspicion regarding the possible presence of gastro-esophageal reflux, independently from the severity of the phenotype of the patients, expecially if behavioural problems are evident. If some doubts exist it’ important to performe a complete diagnostic evaluation (ph study, endoscopy) to achieve a more accurate diagnosis and having starting data to better follow the problems in the future.

The possibility of performing a complete gastro-intestinal X ray evaluation should be considered independently from the presence of specific symptoms to exclude a possible intestinal malrotation.

Hypoacusis and upper airways infections

The search for a possible hypoacusis is very important in CdLS patients because of the selective involvement of the verbal expressive abilities.

The treatment of the conductive hypoacusis should be very accurate because of the multiple negative consequences of an untreated hearing reduction.

The presence of an inflammatory situation at sinuses should also be always considered and searched for, above all in case of behavioural problems.

Puberal development

The control of fertility of young adult women should be deeply considered. Mestrual pain should also be properly treated.