AAP Health Supervision for Children with Achondroplasia Flashcards
1
Q
What are the specific features of achondroplasia on radiographic?
A
- Contracted base of the skull
- Square shape of the pelvis with small sacrosciatic notch
- Short pedicles of the vertebrae
- Rhizomelic (proximal) shortening of the long bones
- Chvron shape of distal femoral epiphysis
2
Q
What is the inheritance pattern of achondroplasia?
A
Autosomal dominant
75% de novo
FGFR3
3
Q
What are complications of achondroplasia?
A
- Lumbosacral spinal stenosis with compression of nerve roots (MC in adults)
- Short stature (~4ft)
- Delayed motor milestones
- Otitis media
- Bowing of lower legs
- Hydrocephalus
- Craniocervical junction compression
- Upper-airway obstruction
- Thoracolumbar kyphosis
- Unexpected infant death 2-5%, due to compression of arteries at level of foramen magnum
- Restrictive pulmonary disease (<5% under 3yo)
4
Q
What are the health supervision guidelines for infancy (1m to 1yo)?
A
- Radiography whenever the diagnosis is suspected
- Review phenotype whenever the diagnosis is suspected
- Review proportions whenever the diagnosis is suspected
- Molecular testing (FGFR3) when diagnosis is not certain
- Early intervention and recurrence risks should be explained via genetic counselling
- Provide with family support
- Provide with support groups
- Growth, weight, occipital-frontal circumference (OFC)
- CT/MRI brain/cervical spine once as a neonate
- Polysomnography once as a neonate then as indicated
- Monitor behavior and development
- Advise parents to avoid unsupported sitting before there is adequate trunk muscle support
- Anesthetic risk is higher
- Advise parents increased risk of serous otitis media
5
Q
What are the health supervision guidelines for early childhood (1-5yo)?
A
- Discuss recurrence risk with a genetic counsellor
- Discuss reproductive options with a genetic counsellor
- Provide family support at 1 & 2yo
- Provide information re: support groups at 1 & 2yo
- Discuss long term planning @ 1 & 2yo
- Monitor growth, weight, and OFC annually
- Monitor hearing annually and consider referral
- Assess social readiness
- Assess speech
- Polysomnography as indicated
- Assess for psychosocial concerns yearly
- Assess for behavior and development
6
Q
What are the health supervision guidelines for late childhood (5-13yo)?
A
- Discuss reproductive options with a genetic counsellor
- Provide family support annually
- Provide information re: support groups annually
- Discuss long term planning annually
- Monitor growth, weight, OFC annually
- Monitor hearing annually and consider referral
- Assess for social readiness yearly
- Assess for orthodontics yearly
- Assess speech
- Polysomnography as indicated
- Assess for psychosocial concerns yearly
- Assess for behavior and development
- Assess school function
7
Q
What are the health supervision guidelines for adolescence (13-21yo)?
A
- Discuss reproductive options with a genetic counsellor
- Provide family support annually
- Provide information re: support groups annually
- Discuss long term planning annually
- Discuss recurrence risks with a genetic counsellor
- Monitor for growth, weight, OFC annually
- Assess for orthodontics yearly
- Polysomnography as indicated
- Assess for psychosocial concerns yearly
- Assess for behavior and development
- Assess school function
- Assess for sexuality concerns
8
Q
What are the health supervision guidelines for the prenatal visit?
A
- Review, confirm, and demonstrate laboratory or imaging studies leading to the diagnosis
- Explain the mechanisms for occurrence of achondroplasia in the fetus and the recurrence risk for the family
- 75% are de novo mutation
- Review natural history and manifestations of achondroplasia, including variability
- Discuss additional studies that should be performed
- Review currently available treatments and interventions
- Discuss options available for family (pregnancy termination, rearing child at home, foster care, adoption)
- If mother affected with achondroplasia recommend cesarian section
- Assess for double heterozygosity or homozygosity for achondroplasia if both parents have disproportionate short stature as can have life threatening problems
9
Q
What are the guidelines for health supervision of achondroplasia from birth to 1mo (newborns)?
A
- Confirm diagnosis by radiographic studies
- Monitor OFC, body length, and body weight and plot on achondroplasia-specific growth charts
- Measure OFC at every pediatric contact during the 1st year
10
Q
What anticipatory guidance should be provided in newborns (birth to 1mo)?
A
- Autosomal dominant inheritance (~75% de novo)
- Most individuals with achondroplasia have normal intelligence and normal life expectancy
- Serious problems only affect 5-10% of infants with achondroplasia
- Growth hormone is ineffective
- Limb lengthening surgery is possible but risky and arduous
11
Q
What should parents of a newborn be counselled on regarding severe medical complications and methods of prevention?
A
- Unexpected infant death occur ~2-5% usu. due to central apnea rising secondary to compression of arteries at level of foramen magnum –> MRI or CT Head should be performed as screening
- Refer to neurosurgeon if neurological deficits noted
- Monitor OFC closely as risk of hydrocephalus –> consider MRI or CT head
- Restrictive pulmonary disease (<5% of children <3yo) –> pulse oximetry if signs
- No unsupported sitting as risk of thoracolumbar kyphosis
- Anesthesia risk:
a) Careful neck manipulation as can cause spinal cord compression secondary to constriction of the formen magnum
b) Ensure medication dose appropriate for size
c) Venous access maybe difficult
d) Avoid spinal anesthesia
e) GA during cesarean delivery for pregnant women with achondroplasia - Discuss psychosocial implications and provide with support and parenting groups
- Discuss with parents how to tell their family and friends about their child’s growth problem
- Supply parents with educational books and pamphlets
- Discuss the realistic functional problems for affected individuals
- Discuss individual resources for support
- Review the prenatal diagnosis and recurrence risks for subsequent pregnancies
12
Q
What are the guidelines for health supervision of achondroplasia in infancy (1mo to 1yo)?
A
- If not diagnosed as newborn, arrange for neuroimaging and polysomnography at time of diagnosis?
- Assess growth and development as per achondroplasia growth charts
- Review OFC and HC
- Refer infants to pediatric neurologist or neurosurgeon if head size abnormal or neurological symptoms and consider repeating neuroimaging
- Check motor development and discuss development
- Check for serous otitis media and formal behavioral audiometric assessment at 9-12mo
- Language delay maybe present secondary to conductive hearing loss
- Monitor for progression of thoracolumbar junction and avoid unsupported sitting
- Be aware external rotation of hips commonly present and usually disappears spontaneously when the child begins to bear weight
13
Q
What anticipatory guidance should be provided in infancy (1mo to 1yo)?
A
- Review the personal support available to the family
- Review contact with support groups
- Observe the emotional status of parents and intrafamily relationships
- Discuss early-intervention services and the importance of normal socializing experiences with other children
- Ask the parents whether they have educated their family members about achondroplasia, discuss sibling adjustment
- Review the increased risk of serous otitis media (short eustachian tubes) and ear exam with symptoms
- Advise parents to avoid infant carriers that curl up the infant excluding car safety seats (rear-facing are better)
14
Q
What are the guidelines for health supervision of achondroplasia in early childhood (1-5yo)?
A
- Assess growth and development and plot on appropriate growth charts
- Monitor OFC and head growth
- Continue to watch for kyphosis and avoid walkers, jumpers, or backpack carriers and weight bearing and walking may occur late
- Refer to orthopedist if bowing of the leg leads to functional difficulties
- Check child’s hips for hip-flexion contractures and prescribe exercises and check hips for external rotation and refer to orthopedist as needed
- Screen hearing yearly and obtain formal audiologic assessment as needed
- Perform speech evaluation at no later than 2yo, if speech is delayed conductive hearing loss attributable to chronic serous otitis media should be excluded
- Monitor for OSA and do pulmonary evaluation and polysomnography
- Monitor for GER
- Greater than average sweating is normal in children with achondroplasia
- If diagnosis delayed >1yo determine if neuroimaging is needed on the basis of clinical signs and symptoms
15
Q
What anticipatory guidance should be provided for achondroplasia during early childhood (1-5yo)?
A
- Adapt home to allow for independence
- Determine if OT consult needed
- Discuss adapting age-appropriate clothing with snapless, easy-opening fasteners and tuckable loops
- Discuss adaption of toys esp. tricycles to accommodate short limbs
- Discuss adaption of toilets to allow comfortable, independent use, with an extended wand for wiping if needed
- Discuss use of stool for feet support and back cushion during sitting
- Review weight control and eating habits to avoid obesity
- Discuss orthodontic bracing and early palatal expansion
- Encourage family to develop activities in which the child can take part, avoid gymnastics, diving, trampolines, and collision sports
- Discuss how to talk with child and friends or family members about short stature
- Encourage preschool attendance so that the child can learn to socialize in an age appropriate manner
- Discuss toileting at school and need for adaptations
