Regular monitoring of children with achondroplasia should be undertaken during clinic visits. Due to the anatomy of children with achondroplasia, gross motor milestones often follow a different pattern to that of children of average stature. Parents should be reassured that this is normal for achondroplasia. It is important to be able to identify when a child falls outside the normal so that appropriate investigations and support can be provided3,8,13.
Children and adults with achondroplasia can find weight loss challenging and obesity is common in this population59,60. Increased weight will have an adverse effect on joints and subsequent mobility and independence. Early encouragement of regular physical activities, such as swimming, coupled with healthy eating will promote a healthy lifestyle, mental wellbeing and prevent obesity62.
Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize. However, 30% of children with achondroplasia have residual gibbus and associated concerns regarding spinal cord stenosis3. Patients with kyphotic curves between 20–40 degrees a year after mobilization should be carefully followed and referral to an experienced spinal team should be considered63–66.
Genu varum occurs in children due to ligamental laxity. Children with achondroplasia present continued progression of varus deformity21. Clinical assessment should include asking about activity-induced discomfort or pain3,21.
It is important that therapy advice and medical management should occur in conjunction with a paediatric orthopaedic and/or paediatric spinal surgeon. Surgeons should be familiar with what is normal in achondroplasia and the implications and quality of life effects that spinal or orthopaedic surgery might have on patients with achondroplasia compared with other patients. As such, decisions for operations are best done in the context or in conjunction with the achondroplasia multidisciplinary team.
We make the following recommendations regarding the management of achondroplasia in children.
Recommendation 53. Middle ear effusions are common in children with achondroplasia and can impair hearing. This condition should be screened for with audiology assessments at least annually in early childhood and, if there are concerns, the children should be referred to ENT for consideration of grommets2,3,8,27,36.
Recommendation 54. If there is speech and language delay in the achondroplasia development milestones, then the child should be referred for speech and language therapy36,67.
Recommendation 55. Obstructive sleep apnoea (OSA) can be a common complication of achondroplasia that presents with apnoea or snoring. Parents should be informed of these symptoms and clinicians should ask about OSA during consultations3,8,27,68–70.
Recommendation 56. A healthy lifestyle with emphasis on physical activity and healthy eating should be encouraged during each consultation of a child with achondroplasia.
Recommendation 57. Infants and children with achondroplasia who are noted to be developing behind their peers with achondroplasia when assessed using condition-specific milestone achievement recommendations should be referred to physiotherapists, occupational therapists and speech pathologists with skills in this area13,56.
Recommendation 58. Children with achondroplasia should be reviewed by a physiotherapist and/or occupational therapist with skills in this area to support the development of independence skills, particularly in the area of self-care activities8,15,33.
Recommendation 59. Trips and falls might be common when the child starts to walk. Parents should be encouraged to keep the child active but be aware that they might trip and fall more frequently than children of average stature so appropriate precautions should be taken15.
Recommendation 60. Careful monitoring of the spine should be undertaken in children with achondroplasia. If a kyphosis has not resolved within a year or is progressive in a child who is walking, consultation with a paediatric orthopaedic spine surgeon with experience in achondroplasia is recommended3,63,64,66.
Recommendation 61. Genu varum might start to develop in this age group (age 2–12 years) and become pronounced. If progressive, evaluation by a paediatric orthopaedic surgeon with experience in achondroplasia should be considered2,3,21,71.
Recommendation 62. The possibility of children with achondroplasia undergoing limb lengthening procedures might be discussed and explained to the patient, family and caregivers at this stage. Psychological consultation is advised before undertaking limb lengthening procedures72.
Recommendation 63. During every consultation, the medical team should actively investigate for the presence of pain and/or fatigue in children with achondroplasia. If these symptoms are present, a clinical assessment to determine the cause should be conducted.
Recommendation 64. Surgical interventions should only be performed by surgeons with expertise in achondroplasia and decisions should be made in conjunction with the input of the full achondroplasia multidisciplinary team.
Recommendation 65. Regular dental assessments for all children with achondroplasia should be encouraged and referral to orthodontics should be made when needed73.
Recommendation 66. Children with achondroplasia should use well-fitted car seats for as long as possible and according to local safety standards.