1. Hearing loss associated with skeletal/ craniofacial abnormalities 2. Hearing loss associated with neurological disorders 3. Hearing loss associated

Hearing disorders in children/ Hala AlOmari

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1. Hearing loss associated with skeletal/ craniofacial abnormalities

2. Hearing loss associated with neurological disorders3. Hearing loss associated with ectodermal or

pigmentery anomalies4. Hearing loss associated with ophthmological

disorders5. Chormosomal abnormalities6. Hearing loss associated with other miscellaneous

anomalies7. Hearing loss associated with endocrine/ metabolic/

renal disorders

Syndromes associated with hearing loss

Hearing disorders in children/ Hala AlOmari

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Treacher Collins syndrome (Mandibulofacial dysostosis)

- narrow face- abnormal pinnae, atresia, malformed ossicles,

mandibular hypoplasia- usually normal intelligence- conductive hearing loss secondary to outer/middle

ear anomalies- autosomal dominant

* A dysostosis is a disorder of the development of bone, in particular affecting ossification


Goldenhar Syndrome (Oculo-Auriculo-Vertebral

- mandibular hypoplasia (incomplete development of the organ)

- aural atresia and microtia- abnormalities in ocular, central nervous,

pulmonary, cardiovascular, gastrointestinal and renal systems

- learning difficulties in a minority- sporadic occurrence (irrigular)


Klippel Feil (Cervico-oculo-acoustic)- fused cervical vertebrae- short thick neck with restricted movement- outer and middle ear anomalies- SNHL or MHL- Recurrent menengitis has been described to

be associated with this syndrome.- usually normal intelligence- sporadic occurrence


Achondroplasia (short limbed dwarfism)- enlarged head,short limbs, bowing of the

lumbar spine- recurrent OME- Can also be associated with SNHL- normal intelligence- autosomal dominant but 80 % new

mutations


Apert syndrome- associated with craniosynostosis (abnormal

closure of skull sutures)- midfacial malformation- low set external ears- syndactyly (fusion) of 2nd,3rd and 4th fingers

and toes- mild to moderate CHL - learning diffs- autosomal dominant but most are new

mutations


Crouzon syndrome (Craniofacial dysostosis)- craniosynostosis resulting in variable skull

deformities- prominent eyes- conductive hearing loss- normal intelligence- autosomal dominant

* craniosynostosis premature fusion of the skull sutures


Osteogensis imperfecta also known as brittle bone disease

- Autosomal dominant condition- Typically causes CHL- Deafness is thought to be due to

otoscelerotic changes in the stapedial footplate

- High incident of infant death associated with the syndrome due to recurrent bone fractions.


Cleft palate and lip- CHL- The most common of the deafness

syndromes and is associated with sercretory otitis media secondary to myopalatal anomalies.


Severe infantile muscular dystrophy- Autosomal recessive - Mild to moderate HL- Associated with typical muscle wasting

2. Hearing loss associated with neurological disoprders

Waardenburg Syndrome- lateral displacement of the medial canthi (inner

corners) of eye,broad nasal root, white forelock, premature greying, changes in skin pigment,

- abnormal eye colour including heterochromia (2 colours of eyes) or brown sections in blue eyes

- hearing loss varies from normal to profound - can be unilateral

- normal intelligence- autosomal dominant with variable expression

3. Hearing loss associated with ectodermal or pigmentery anomalies

Multiple Lentigines Syndrome (LEOPARD)- lentigines - freckly dark brown spots on neck

and upper trunk- electrocardiographic defects- ocular hypertelorism (increased distance

between the two eyes)- pulmonary stenosis (narrowing of the passage)- abnormalities of genitalia- retardation of growth- Deafness- dominant

3. Hearing loss associated with ectodermal or pigmentery anomalies

Usher Syndrome- hearing loss + retinitis pigmentosa (progressive visual

problem starting with tunnel vision and night blindness progressing to total blindness)

- normal intellectual and neurological function- autosommal recessive (several different genes)- Type 1 - congenital severe to profound h loss, absent

vestibular responses and visual problems in childhood- Type 2 - congenital mod-severe HL, normal vestibular

responses and development of visual problems in late teens /early twenties

- Type 3 - progressive HL with variable onset visual problems

4. Hearing loss associated with ophthmological disorders

Down Syndrome (Trisomy 21)- results when an extra copy of chromosome 21 is present- flat facial appearance- protruding tongue- almond shaped eyes- straight hair- hypotonia (low muscle tone)- small hands with characteristic palmar crease, mild to

severe learning difficulties- cardiac abnormalities- small pinnae, narrow ear canals, frequent and persistent

OME, mild mod CHL/MHL

5. Hearing loss associated with chromosomal disorders

Trisomy 13 (Patau syndrome)- severe growth retardation- Microcephaly- microphthalmia (micros = small; ophthalmos =

eye) with coloboma (small eyes with defect of iris)

- cleft lip and palate- polydactyly of fingers and toes- congenital heart and renal problems, profound

developmental delay- Hearing loss


Trisomy 18 (Edwards syndrome)- similar to Trisomy 13

Turners syndrome- SNHL or CHL- Webbed neck (joined by skin membrane)- Webbing of digits - High arched palate- Microganthia (is a condition where the jaw is

undersized. It is also sometimes called "Mandibular hypoplasia“)


CHARGE syndromec=coloboma (defect of iris, retina or optic disc)h=congenital heart diseasea=atretic nasal choanae (posterior of the nasal cavity)r=growth retardationg=genital defectse=ear anomalies

- often have abnormal ears and conductive, mixed or SNHL

- often have learning difficulties- usually sporadic but can be autosomal dominant

6. Hearing loss associated with other miscellaneous anomalies

Alport Syndrome- progressive hearing loss and kidney disease

which can vary from mild problem to kidney failure

- normal intelligence- males affected more than females- can be X linked, autosomal dominant or

autosomal recessive

7. Hearing loss associated with endocrine/ metabolic/ renal disorders

Pendred Syndrome- congenital mild to severe hearing loss with

enlargement of the thyroid gland secondary to metabolic dysfunction at around 10 yrs of age

- normal intelligence- autosomal recessive (may also be

dominant)

7. Hearing loss associated with endocrine/ metabolic/ renal disorders

TORCH◦ Toxoplasmosis◦ Other (e.g., syphilis)◦ Rubella (German measles)◦ Cytomegalovirus (CMV)◦ Herpes

Congenital infections which may cause hearing loss

human infection by the toxoplasma gondii parasite typically occurs via undercooked meat, contaminated raw vegetables or close contact with infected domestic animals

usually asymptomatic but can cross the placenta and infect the foetus.

Most infected infants are asymptomatic but some have severe disease.

Visual problems are most common sequelae but learning difficulties and hearing loss have been reported.

Toxoplasmosis

viral infection,can be asymptomatic, however if infection occurs in the first trimester of pregnancy the virus may infect the foetus giving rise to congenital anomalies

most common of these are cardiac problems, eye problems including blindness and deafness

children who are born with the infection may have (IUGR) intrauterine growth retardation, and enlarged liver and spleen (hepatosplenomegaly)

Rubella (German measles)

CMV is a member of the herpes family of viruses, usually asymptomatic but primary infection in a pregnant woman can result in congenital CMV infection in the foetus, most infected infants are asymptomatic at birth,

infants who are symptomatic show IUGR, micrcephaly, congenital cataracts, hepatosplenomegaly.

Infection at any stage of the pregnancy can damage the foetus, hearing loss is often progressive

Cytomegalovirus (CMV)

Is a sexually transmitted disease Have influence on the mother and the baby do not produce any symptoms, these infections

generally go undiagnosed. Babies contract the disease during delivery or get

infected from adults The disease can be localised and can spread to

other organs the extent of the disease can range from rash on

the skin, to involvement of the eyes and mouth, to infection of the brain, to infection throughout the body

Herpes

Cerebral Palsy (CP)caused by damage to brain pre, peri or post natally;

paralysis, weakness, incoordination or other abnormality of motor function resulting in spasticity, athetosis (involuntary movements), ataxia (loss of ability to control movements)

convulsive disorders and learning difficulties are common, mild to moderate HL, often worse at high frequencies

Cleft lip and /or palateoccurs in about 1 per 900 birthsbetween 50 - 90 % have OME (otitis media with

effusion)

Other problems commonly associated with hearing loss

Hydrocephalusalteration in circulation or production of CSF, due to

obstruction within the ventricular system or exetrnal to the ventricles, if left untreated ventricles will enlarge, compress cortex and skull will enlarge.

Treatment includes identification of underlying cause and relief of pressure usually by insertion of ventriculoperitoneal shunt. Shunt requires revision to allow for growth

Measles viral infection, can cause hearing loss Mumps viral infection, can cause unilateral hearing loss

Other problems commonly associated with hearing loss

Documents

1. Hearing loss associated with skeletal/ craniofacial abnormalities 2. Hearing loss associated with neurological disorders 3. Hearing loss associated