Cleft Palate + Genetic Syndromes

Cleft

an opening in a normally closed structure

The embryonic period takes place between weeks ______ of gestation.

3 - 8

What is the most crucial period for genetic malformations?

Embryonic period

When does the embryological closure of the lip and alveolar ridge take place?

around the 7th week of gestation

The ______ processes give rise to the lower jaw, lower lip, and chin.

mandibular

The _______ processes form most of the face, mouth, cheeks, sides of the upper lip, most of the hard palate, alveolar ridge, and the soft palate.

maxillary

True or False: The upper lip develops as a single structure.

False

When do the lower jaw, lower lip, and chin form and fuse?

by the end of the 4th/5th week

When does the closure of the hard and soft palate start?

around 9 weeks of gestation

When does the fusion of the two shelves of the hard palate at midline occur?

between 8th and 9th weeks of gestation

When does the soft palate form?

by the 12th week of gestation

Embryological development proceeds from the incisive foramen inward / outward.

outward

Submucous cleft

surface tissues of soft or hard palate fuse but underlying muscle or bone tissues do not; presents with hypernasal speech

Congenital Palatopharyngeal Incompetence (CPI)

significant impairment of velopharyngeal functions as revealed by videofluoroscopy or endoscopy

• Not a form of clefting

• Laryngeal structures appear normal

• May be caused by a short palate, an occult submucous cleft palate, reduced muscular mass of the soft palate, a deep or enlarged larynx, incorrect insertion of  levator muscles, or combination of factors

• Hypernasal speech

Common speech sound errors with cleft:

• Difficulty with unvoiced sounds, pressure consonants, audible or inaudible nasal air emission, and distortion of vowels

• Difficulty with sibilants (s, z),  high pressure stops (b, p), and fricatives

• Compensatory errors, such as substitutions of stops, fricatives, and affricates with unusual/posterior movements  and posture of tongue (e.g., glottal stops for stops, laryngeal fricatives for fricatives,  pharyngeal affricates for affricates)

• Difficulty with affricates, fricatives, and plosives, if velopharyngeal closure  is inadequate

If a child with cleft exhibits compensatory errors, they may substitute ____ stops for stops, _____ fricatives for fricatives, ____ affricates for affricates, and general unusual posterior / anterior movements.

glottal, laryngeal, pharyngeal, posterior

Nasopharyngoscopy

Endoscopic examination of velopharyngeal mechanism

Oral manometer

used to assess velopharyngeal closure

If the oral manometer shows a score of 1, this indicates ____ _____. If it shows a score of less than 1 (0.87 or below), this indicates _____.

adequate closure, VPI

A score of ____ or below on the oral manometer is a strong indication of VPI.

0.87

Nasalence

ratio formed between oral and nasal sound pressures

Cephalometric analysis

Analyzes size and range of motion of soft palate and related structures

What is the Rule of 10s for making decisions for surgery?

Wait until the child is a weight of 10 pounds, age of 10 weeeks, and has a hemoglobin of 10

Primary surgery for clefts

initial surgery in which the clefts are closed

Secondary surgeries for clefts

additional surgery to improve appearance and functioning after initial closure of the clefts

When is lip surgery typically done?

around 3 months old

When is palatal surgery typically done?

around age 9-14 months old

V-Y retroposition

single-based flaps of palatal mucoperiosteum are raised on either side  of the cleft and brought together and pushed back to close the cleft; lengthens palate and improves chances of velopharyngeal approximation

Von Langenbeck surgical method

raises two bipedicled flaps of mucoperiosteum, bringing them together and attaching them close to the cleft, leaving denuded bone on either side and not lengthening the palate

Pharyngeal flap

secondary procedure in which a muscular  flap is cut from the  posterior pharyngeal wall,  raised, and a attached to the velum; openings on either side of the flap allow for  nasal breathing, nasal drainage, and production of nasal speech sounds; reduces hypernasality

Pharyngoplasty

teflon or silicone is implanted or injected into posterior  pharyngeal wall to make it bulge and thus help close the velopharyngeal  port

Obligatory distortions

occur when function (e.g. articulation) is normal but structure is abnormal

Compensatory distortions

occur when articulation placement is altered in response to abnormal structure such as dental malocclusion or VPI

True or False: Speech therapy is indicated for children with obligatory distortions.

False

What classes of sounds should be taught first?

Stops and fricatives

____ visible sounds should be taught before ____ visible sounds, except for linguadentals.

more, less

What sounds may be inappropriate to teach if velopharyngeal functioning is inadequate?

/k/ and /g/

Electropalatography (EPG)

Orthodontist designs artificial palate with 62 embedded electrodes connected to a computer. It is fitted to the child’s mouth like a retainer. When the tongue contacts the electrodes during speech,  articulatory patterns can be seen on the computer screen

• Provides client with immediate visual feedback on tongue placement

Hypernasality due to VPI should not be treated until:

(a) there is surgical or prosthetic efficacy to improve the physiological functioning and

(b) the child is capable of VP closure but is using previously established  inappropriate compensatory patterns that can be modified

Class I malocclusion

normal bite

Class II malocclusion

overbite

Class III malocclusion

underbite

Etiology of Angelman syndrome (AS)

chromosome 15 is duplicated from the father or deleted from the mother

Etiology of Apert syndrome

caused by spontaneous autosomal dominant mutations

Etiology of Cri du Chat syndrome

caused by an absence of the short arm of the fifth chromosome (5p)

Etiology of Crouzon syndrome

caused by autosomal dominant inheritance with varied expression in individuals

Etiology of Down syndrome

caused by an extra chromosome 21, resulting in 47 chromosomes instead of 46

Etiology of Fragile X syndrome

caused by expansion of the nucleic acid cytosine-guanine-guanine (CGG), which repeats too often on the fragile X messenger ribonucleoprotein 1 gene (FMR1), located on the bottom end of the X chromosome

Etiology of Hurler’s syndrome

rare, congenital metabolic disease caused by autosomal recessive deficiency of a-L-iduronidase

Etiology of Landau-Leffner syndrome

unknown cause

Etiology of Marfan syndrome

autosomal dominant inherited disorder caused by mutations in  FBN1 gene

Etiology of Moebius syndrome

heterogenous causation, including agenesis or aplasia of the motor nuclei of the cranial nerves. Sporadic, unpredictable occurrence in most cases and autosomal dominant inheritance in some cases

Etiology of Pierre-Robin syndrome

caused by autosomal recessive inheritance in most cases; may be a part of Stickler syndrome (autosomal dominant inheritance) in some cases

Etiology of Prader-Willi syndrome

suspected to be caused by autosomal dominant inheritance and deletion in the region of the long arm of chromosome 15

Etiology of Russell-Silver syndrome

suspected to be caused by genetic factors

Etiology of Tourette syndrome

inherited neurological disorder with unknown cause; possibly due to abnormality in genes affecting brains’ metabolism of neurotransmitters

Etiology of Treacher Collins syndrome

caused by autosomal dominant inheritance in most cases and spontaneous mutation in some

Etiology of Trisomy 13

extra copy of chromosome 13

Etiology of Turner Syndrome

caused by missing or deformed X chromosome (occurs only in females)

Etiology of Usher syndrome

caused by autosomal recessive inheritance in most cases; X-linked in rare cases; affects 50% of people who are deaf and blind

Etiology of Velocardiofacial Syndrome

unknown cause; genetic disorder where small part of chromosome 22 is missing

Etiology of Williams syndrome

rare genetic disorder caused by abnormality on chromosome 7

Characteristics of Angelman syndrome

• Normal prenatal and birth history, normal head circumference, no obvious birth defects

• Seizures, stiff/jerky gait, laughter and happy demeanor, easily excitable personality, hypermotoric behavior, hand-flapping, short attention span

• Few or no words; nonverbal communication and receptive skills > verbal expressive skills

What syndrome may present with normal intelligence or mild to moderate intellectual disability?

Apert syndrome

Characteristics of Apert syndrome

• dyndactyly of the second, third and fourth digits

• craniosynostosis, resulting in smaller skull diameter, high forehead, and increased intracranial pressure

• midfacial hypoplasia; arched and grooved hard palate

• conductive hearing loss

• class III malocclusion; irregularly placed teeth

• hyponasality, forward carriage of tongue, artic errors w/ alveolar consonants and labiodental sounds

Characteristics of Cri du Chat syndrome

• high-pitched cry of long duration (resembling a cat), low-set ears, narrow oral cavity, laryngeal hypoplasia, microcephaly, micrognathia, oral clefts

• Artic and language disorders typical of intellectual disability

Characteristics of Crouzon syndrome

• craniosynostosis; hypoplasia of midface, maxilla, or both; ocular hypertelorism; protrusion of eyeballs; strabismus; parrotlike nose; facial assymetry and tall forehead; malocclusion class III

• conductive HL, hyponasality, artic disorders

Characteristics of Down syndrome

• generalized hypotonia; flat facial profile; small, ears, nose, and chin; brachycephaly

• short neck with excess skin on back, hyperflexible joints, short fingers, cardiac malformations

• conductive HL, hyoernasality, good vocabulary skills in comparison to syntax and morphology

What is the leading inherited cause of intellectual disabilities in males?

Fragile X syndrome

Characteristics of Fragile X syndrome

• large, long, and poorly formed pinna; big jaw; enlarged testes; high forehead

• mood instability, anxiety, seizures, aggression, sleep disturbances, attention deficits

• compromised speech intelligibility/cluttering, jargon, echolalia, lack of nonverbal comm, deficits in syntax

• may avoid eye contact, withdraw socially, limited attention spans, hyperactive

Characteristics of Hurler’s syndrome

• dwarfism, hunched back, intellectual disability, short and thick bones, coarse facial features with low nasal bridge, sensorineural deafness, noisy respiration, vocal fatigue/hoarseness

• thick, everted lips; large tongue; small-malformed teeth (resulting in compromised intelligibility)

Characteristics of Landau-Leffner syndrome

formerly healthy children ages 3-7 years old lose their ability to comprehend language and then to speak it

• permanent for some; others experience relapse and remission

Intelligence is not impacted in what syndrome?

Marfan syndrome

Characteristics of Marfan syndrome

• affects connective tissue and may include bone overgrowth and loose joints

• overgrowth of ribs can cause sternum to bend inward or push outward

• 70% of people have restrictive lung disease, which prevents chest from expanding fully, leading to shortness ofbreath during speech

• intelligence is not affected

Characteristics of Moebius syndrome

• often involves facial and hypoglossal nerves; sometimes trigeminal

• bilabial paresis and weak tongue control for lateralization, elevation, depression, and protrusion; unilateral or bilateral paralysis of abductors of eye; limited strength, range, and speed of movement of articulators

• delayed language in some cases (especially with frequent hospitalizations); mild to severe artic disorders with bilabial, linguadental, and lingu-alveolar sounds affected

Characteristics of Pierre-Robin syndrome

• mandibular hypoplasia, cleft of soft palate (not lips), VPI, deformed pinna, low-set ears, temporal and ossicular chain deformities

• glossoptosis - tongue is positioned posteriorly, which may block airway and pharynx

• unilateral or bilateral conductive HL assoc with otitis media and cleft palate, delayed lang and artic disorders, hypernasality and nasal emission, hypercomensatory artic

Characteristics of Prader-Willi syndrome

• low muscle tone, early feeding difficulties, failure to thrive initially, obesity after first year, excessive eating, underdeveloped genitals

• imprecise artic, oral-motor difficulties, hypernasality, flat intonation, slow speaking rate, harsh/hoarse voice, abnormal pitch

• developmental delays and intellectual disability (expressive lang is better than receptive)

Characteristics of Russell-Silver syndrome

low birth weight, small for gestational age, dwarfism

• asymmetry of arms or legs, disproportionately large head, craniofacial disproportion, mandibular hypoplasia, high/narrow palate, micordontia

• hypernasality, feeding problems in infants, artic/lang disorders, abnormally high pitched voice

Characteristics of Tourette syndrome

• uncontrollable tics (sometimes including obscenities), repeated involuntary movements, echolalia

• occurs more often in males

• first symptoms are facial tics, then other motor tics appear

Characteristics of Treacher Collins syndrome

• underdeveloped facial bones, including mandibular and malar hypoplasia, dental malocclusion and hypolasia

• cleft of lower eyelid, stenosis or atreesia of external auditory canal, malformation of pinna

• high hard palatee, cleft palate, submucuous cleft

• congenital, bilateral conductive HL and assoc disorders, hypernasility/VPI

Characteristics of Trisomy 13

• life-endangering birth defects

• midline facial deformities and midline cleft lip, indicating holoprosencephaly (failure of brain to divide into hemispheres)

• may die before first birthday

What syndrome occurs only in females?

Turner syndrome

Characteristics of Turner syndrome

• ovarian abnormality, congenital swelling of feet/neck/hands, cardiac defects, webbing of neck, low posterior hairline, broad chest, narrow maxilla/palate, micrognathia, RH dysfunction

• sensorineural HL, middle ear infections, visual/spatial/attentional deficits

What syndrome affects 50% of people who are deaf and blind?

Usher syndrome

Characteristics of Usher syndrome

• night blindness in early childhood, limited peripheral vision, eventual blindness, cochlear abnormalities

• sensorineural HL, lang/artic disorders, hypernasality/nasal emission

Characteristics of Velocardiofacial syndrome

• associated with 180 anomalies (e.g., middle ear infections, learning problems, speech and feeding problems, VPI/cleft palate)

• wide nose, small ears, almond-shaped eyes, micrognathia, microcephaly

• feeding problems, failure to thrive

What syndrome is most commonly associated with cleft palate?

Velocardiofacial syndrome

Characteristics of Williams syndrome

• medical problems result from abnormality of gene that makes the protein elastin, which provides elasticity and strength to blood vessel walls

• elf-like appearance, small boned and short, long upper lip, wide mouth, full lips, small chin, upturned nose, puffiness around eyes, abnormalities of dental occlusion small, widely spaced teeth

• lower IQs but can show high intelligence in other areas

• strong interpersonal skills, charming personalities

During which weeks of gestation is the risk of developing a cleft palate highest due to disruptions in embryonic growth processes?

4 - 6 weeks