Table 4 Recommendations of the management working group
R | Recommendation | Strength of recommendation |
|---|---|---|
22 | It is recommended that each patient with BWSp should have an experienced lead health-care provider who will organize the referral to each specialist and will coordinate care for the patient | A+++ |
Prenatal management | ||
23 | If a diagnosis of BWSp is suspected or confirmed in the prenatal period, then potential BWSp-related fetal and maternal complications (for example, fetal congenital anomalies, shoulder dystocia from macrosomia, postnatal hypoglycaemia and maternal preeclampsia) should be anticipated and appropriate clinical care should be performed | A+++ |
24 | If a diagnosis of BWSp is suspected or confirmed in the prenatal period, then delivery should take place in a clinical facility where neonatal intensive care can be provided | A+++ |
Growth and lateralized overgrowth | ||
25 | Growth charts from BWSp patients are needed | A+++ |
26 | Physicians should be aware of the rare possibility of final height >2 SDS above the mean. Postnatal growth and pubertal development should be monitored at least annually until the end of growth | A++ |
27 | Appropriate interventions might be proposed in the case of possible tall stature with the same procedures as for other patients with tall stature | A++ |
28 | Monitoring of leg length discrepancy should be based on clinical examination | A++ (LO) |
29 | Patients with BWSp should be monitored for LLD at least annually during childhood and referred to a paediatric orthopaedic surgeon if LLD is present | A+++ (LO) |
30 | Shoe-lifts might be indicated for LLD <2 cm. Epiphysiodesis is usually indicated for predicted LLD >2 cm. Reversible epiphysiodesis might be preferred | A++ (LO) |
31 | Lengthening of the shorter normal limb should be considered only for specific cases | A+++ (LO) |
32 | Surgical correction of asymmetric overgrowth of the upper limbs is generally not indicated | A+++ (LO) |
Management of macroglossia | ||
33 | If substantial airway obstruction is suspected, a careful evaluation including sleep studies (polysomnography) and/or pulmonologist consultation and ear, nose and throat consultation should be performed | A+++ |
34 | Tongue reduction surgery should be considered usually after the age of 1 year if there are macroglossia-associated feeding problems, persistent drooling, speech difficulties, dental malocclusion and psychosocial problems caused by the altered appearance | A+++ |
35 | Surgical intervention (adenoid tonsillectomy with or without tongue reduction surgery) should be considered earlier in cases of severe airway obstruction | A+++ |
36 | In cases of feeding difficulties, support from feeding specialists and dietetics should be proposed | A+++ |
37 | Tongue reduction surgery should be performed by an experienced surgical team after detailed assessment by a multidisciplinary team (including paediatric anaesthesiologists, intensive care unit members, surgeons, speech therapists and orthodontists), preferably in a reference centre | A+++ |
38 | The results of surgery should be carefully audited, and postoperative follow-up should continue until age 16 years | A+++ |
Management of exomphalos | ||
39 | Treatment of exomphalos in the context of BWSp should be in accordance with general recommendations for the treatment of exomphalos; however, in BWSp-associated cases, attention should be paid to the risk of hypoglycaemia and the anaesthetic risks associated with severe macroglossia | A+++ |
Management of hypoglycaemia | ||
40 | Capillary blood glucose should be monitored in neonates with a clinical suspicion or confirmed diagnosis of BWSp for the first 48 hours of life. Hypoglycaemia should be defined by two consecutive (30 min) glucose levels <50 mg/dl (<2.75 mmol/l) during the first 6 hours of life or <60 mg/dl (<3.5 mmol/l) later. In case of hypoglycaemia, the newborn baby should be transferred to a neonatal intensive care unit | A++ |
41 | A diagnostic fasting test (including measurement of glucose, insulin and ketones after 6 hours of fasting for full-term babies and after 4 hours for preterm babies) should be performed 48 hours after birth and before discharge from the nursery for neonates with a suspicion of BWSp | A++ |
42 | No specific management of hyperinsulinism and/or hypoglycaemia has been proposed in the context of BWSp, and management of hyperinsulinism and/or hypoglycaemia should be performed according to general recommendations | A++ |
43 | In case of severe persistent hyperinsulinism in a patient with BWSp, additional causes of hyperinsulinism should be investigated | A+++ |
Management of cardiac lesions | ||
44 | Physicians should be aware of the increased prevalence of cardiac anomalies in children with BWSp | A++ |
45 | A baseline, clinical cardiovascular examination should be performed at diagnosis in all children with clinical and/or molecular diagnosis of BWSp. Individuals with clinically detected or suspected cardiovascular abnormalities should be referred for specialist cardiac assessment and echocardiography | A+++ |
46 | Annual evaluation and electrocardiogram are recommended in patients with genomic rearrangements involving the IC2 region | B+ |
47 | Management and follow-up of congenital cardiac lesions (for example, ventricular septal defect) should be as in the population without BWSp | A+++ |
Management of neurological features | ||
48 | Cognitive development should be monitored by the paediatrician. Particular attention should be paid to those with risk factors such as preterm birth and neonatal hypoglycaemia and to carriers of chromosome rearrangements or paternal genome-wide UPD | A+++ |
49 | For patients with a clinical diagnosis of BWSp and a learning disability with no molecular or chromosomal anomaly, other potential diagnoses should be considered and excluded (Supplementary information S3 (table)) | A+++ |
50 | Neurological investigations, including MRI, might be indicated only in children with neurological symptoms | A++ |
Management of renal complications | ||
51 | At diagnosis of BWSp, all patients should be screened for nephro-urological malformations by clinical evaluation and USS | A+++ |
52 | Physicians should be aware of the possibility of hypercalciuria, which can lead to nephrocalcinosis | A++ |
53 | Patients with USS-detected anomalies should be referred to a paediatric nephrologist and urologist for specific follow-up | A+++ |
54 | For patients undergoing abdominal surveillance for tumour screening, physicians and radiologists should pay attention to the possibility of nephrocalcinosis and/or stones | A+++ |
55 | For patients with BWSp, at the time of adult transition, a nephro-urological evaluation (clinical examination, blood pressure and USS) should be performed | A++ |
BWSp and embryonal tumours | ||
56 | Screening should be stratified according to the genotype | A+++ |
57 | Abdominal USS for BWSp-related tumours every 3 months until age 7 years is recommended for all patients with BWSp except patients with isolated IC2 LOM | A++ |
58 | For patients with BWSp and upd(11)pat, abdominal USS for Wilms tumour and hepatoblastoma every 3 months until age 7 years is recommended | A+++ |
59 | For patients with BWSp and IC1 GOM, abdominal USS for Wilms tumour every 3 months until age 7 years is recommended | A+++ |
60 | For patients with BWSp and IC2 LOM, no tumour surveillance is recommended | *A/B+ |
61 | For patients with BWSp and a CDKN1C mutation, abdominal USS for neuroblastoma every 3 months until age 7 years is recommended | A+ |
62 | For patients with BWSp and an 11p15 duplication, abdominal USS for Wilms tumour every 3 months until age 7 years is recommended | A+++ |
63 | For patients with classical BWS without a molecular defect, abdominal USS every 3 months until age 7 years is recommended | A++ |
64 | α-Fetoprotein (AFP) screening is not recommended for patients with BWSp | A+ |
65 | Catecholamine screening is not recommended for patients with BWSp | A+++ |
66 | There should be a lower threshold for investigation in cases of possible tumour-related symptoms or in response to parental concerns | A+++ |
67 | Treatment of tumours in patients with BWSp might be different from treatment of patients with sporadic diseases and should be discussed with respective study groups unless specific BWSp recommendations are given in the relevant tumour treatment protocols | A+++ |
Late-onset complications | ||
68 | Individuals with BWSp should be reviewed at age 16–18 years to identify any complications that will require continued follow-up by adult health-care services | A+++ |
69 | Young adults with BWSp should be alerted to the availability of genetic counselling so that they can seek advice prior to starting a family | A+++ |
70 | Given the paucity of data on the long-term health effects of a diagnosis of BWSp, further research should be undertaken | A+++ |
Psychological and counselling aspects | ||
71 | Health professionals caring for children and families with BWSp should take a holistic approach to care and be prepared to offer referral to specialist counselling and family support services as required. Especially, psychological evaluation and support should be offered to children and their families if required | A+++ |
72 | When the clinical diagnosis is confirmed, parents should be offered the contact details of BWSp support groups | A+++ |
