Apert syndrome is a congenital condition and comes under classification of craniofacial anomalies. Its named after a French physician who first described it in 1906.Apert syndrome causes abnormal growth of many bones in the body, primarily the skull, mid face, hands, and feet.
Features
- Skull is severely affected. Skull bones are prematurely fused and hence the skull doesn’t grow normally
- Face, especially the eyes and jaw are affected. The mid face, which is the area from the middle of the eye socket to the upper jaw, appears sunken. Due to this the eyes bulge out and the eyelids tilt downward.
- Face might have acne
- Hair might be unruly
- Cleft palate and deafness are usually seen
- Syndactyly ( joined fingers and toes) also seen
- Delays in mental abilities present. The delay can vary from mild to moderate.
- Speech development may be delayed and deviant
- Associated behavioural problems are common
Causes
Genetic mutation causes Apert syndrome. The gene responsible for Apert syndrome is on chromosome number 10 called ‘Fibroblast Growth Factor Receptor 2’ (FGFR2 for short). Apert syndrome seems to occur more in children with older fathers.
The condition can be inherited from a parent who has Apert or it may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births making it a rare condition. If you have Apert syndrome, you have 50 % chances of passing it to your child. However, Apert is not a recessive trait, that is the normal child of an parent with Apert is no more like to have another child with Apert syndrome. Also if your child has Apert, and you don’t, you are not likely to have another child with Apert.
Intervention Team
A craniofacial team that helps such children consists of
- Craniofacial surgeon
- Neurosurgeon,
- ENT specialist
- Audiologist
- Speech pathologist
- Oral surgeon
- Psychologist
- Ophthalmologist
- Orthodontist
A team approach is used by these physicians to outline the best collective plan for the deviancies and delays of the child.
Associated problems
The following problems have been observed in some children with Apert syndrome. However, whether or not they were caused by Apert syndrome is uncertain.
- Heart defects
- Cleft palate
- Dextrorotation
- Pulmonary Artresia
- Patent Ductus Arteriosus (PDA)
- Tracheoesophageal Fistula
- Pyloric stenosis
- Polycystic kidneys
- Bicornate uterus
- Hydrocephalus
- Ear infections which can cause hearing loss
- Sleep Apnea, small nose and airway passage makes breathing difficult
- Severe acne, hyperactive sweat glands
- Increased incidence of eye injuries, imbalance of eye muscles
Speech Language Characteristics of children with Apert Syndrome
Depending on the nature and degree of the features present, a child can present a host of speech and language deviances. Communication can be impaired with core cognitive delays forming the basis of most difficulties. There can be hearing loss, cleft lip/palate and intellectual disabilities which come in the way of acquisition of language. The following areas can be affected –
- Language – Deficits vary with cognitive abilities, status of hearing and when the surgery is performed.
- Articulation – Severely unintelligible speech if cleft palate isn’t repaired early on time. Mostly difficulties in the speech sounds – s, z,t,d,f, v are seen.
- Oral Motor difficulties – High arched palate, irregular dentition, malocclusion, forward posture of the tongue are commonly seen
- Voice – Hyponasality due to changes in oro – pharyngeal structures.
- Feeding and Swallowing difficulties – Early tube feeding might be required.
- Aural rehabilitation– Bone conduction amplification is recommended.
Cognitive Skills
Around 40 % of all children with Apert syndrome develop typical cognition. The cognitive skills depend highly on early surgical intervention of the brain structures. Even after good surgeries, some children might not develop fair congnition. A positive rewarding environment, good social opportunities, availability of appropriate educational and therapeutic intervention has a great impact on a child’s cognitive and behavioural skills.