SPSC113 Week 9 Cleft Lip and Palate PDF

SPSC113 – Week 9 Cleft Lip and Kenny Ardouin [email protected] Palate Don’t let the world change your smile, let your smile change the world.  Speech Language Therapist / Lecturer in SPSH Completed...

SPSC113 – Week 9 Cleft Lip and Kenny Ardouin [email protected] Palate Don’t let the world change your smile, let your smile change the world.  Speech Language Therapist / Lecturer in SPSH Completed my MSc project in 2021 examining lifelong impacts of cleft Currently completing a programme of research My to deliver and evaluate interventions to improve cleft QoL involvement Supervise Honours & Masters student research with the cleft in cleft community Former Adult Cleft Services Manager at CLAPA based in London, UK Former Chief Executive Officer of Cleft New Zealand – the support group for all those affected by cleft lip and palate in New Zealand Expertise by training combined with expertise by experience What is cleft lip and palate? Face Development in Utero  Structures move towards the midline and fuse together starting at the lip around 6 weeks and progressing to the soft palate which will be sealed by around the 16th Face week Development in Utero Unless something disrupts its development…  Cleft Lip Can range from a slight notch in the lip to complete separation in one (unilateral) or both (bilateral) sides of the lip extending up and into the nose. Cleft Palate Occurs when the roof of the mouth What is Cleft has not joined completely. Can range from a bifid uvula to complete separation of the roof of the mouth Lip and Palate? (soft and hard palate) and running through the alveolar ridge. Submucous Cleft A cleft of the soft palate that is covered by a layer of skin Bifid Uvula A cleft of the uvula only  Type Cleft Lip (CLO) Cleft Palate (CPO) Cleft Lip and Palate (CLP) Submucous Cleft Cleft Bifid Uvula Classification Where Unilateral (UCL / UCLP) Bilateral (BCL / BCLP) And whether complete or incomplete – e.g. microform cleft  Cleft Lip Generally detectable during the 20-week anomaly scan, however it can be missed Antenatal – e.g. if the baby has its hand in front of its face. Identification Cleft Palate Difficult to locate on an antenatal scan of CLP (particularly if occurring in isolation). Diagnosis is usually made at birth. Submucous Cleft Difficult to locate antenatally. Should be located at the same time as the newborn APGAR screening but sometimes won’t be identified for days, weeks, months or (in some cases) years. What does ‘normal’ look like?  Third most common congenital condition in NZ (most common to affect the face) So how Global average of cleft = 1/700 (live births) common is New Zealand average = ~1/550 (Thompson et al., 2016) cleft in New Māori population have highest incidence Zealand? of isolated Cleft Palate in the world (~1/460) but this population have a lower rate of CL and CLP than other ethnicities Genetic and Environmental Factors of Cleft Causes of Cleft Lip and Palate In most cases (including cases without a syndromic link), the cause is multifactorial Cleft generally occurs as a combination of genes + environment. The incidence follows a bell curve and once the combination of genes and environment tips over the threshold, the child would be born with a cleft. Another way to look at it This is known as Threshold Theory We all have genetic predispositions to certain conditions (e.g. we may be a carrier for a condition). Think of this as a glass with a few marbles in it. Our partner also will have genetic predispositions to certain conditions. Add their marbles to your glass. There’s environmental factors which add additional marbles to the glass. If the total number of marbles doesn’t fill the glass, then the child wouldn’t be born with a cleft. If however, the marbles spill over the top of the glass, the threshold has been exceeded and a cleft would occur. Once a cleft occurs, the likelihood of it reoccurring increases If one parent has a cleft, the chance of their child having a cleft is 1 in 50. If both parents were born with a cleft, the chance of their child having a cleft increases to 1 in 10.  Environmental Factors implicated with Cleft Risk Factors Maternal exposure to rubella, varicella (chickenpox), cytomegalovirus (CMV), common cold, influenza, COVID-19, and certain other infections during pregnancy Alcohol intake during pregnancy – e.g Foetal Alcohol Syndrome Lifestyle and diet choices – e.g. smoking Use of certain prescription medicines Protective Factors Folic Acid Planned Pregnancy High Quality Diet – e.g. Mediterranean Diet Cleft Care in Aotearoa Cleft Care in A multidisciplinary team typically consisting of Cleft Co- Aotearoa ordinator/Cleft Nurse, Speech Language Therapist, Ear Nose and Throat Specialist, Audiologist, Orthodontist, Plastic Surgeon, Maxillofacial Surgeon, Dentist, etc. 5 units in Aotearoa – Auckland, Waikato, Hutt, Christchurch, Dunedin Some regional outpatient services – e.g. orthodontics, speech therapy  Example Cleft Care Pathway in Aotearoa Adulthood (18+) Orthognathic Surgery  Cleft Lip Repair – 3-6 month target Cleft Palate Repair – 9-13 month target Primary – predominantly done for speech, feeding and hearing – designed to seal Surgical Repairs the gap between oral and nasal cavities Alveolar Bonegraft – 9-10 years of age  Pharyngeal Flap – designed to improve velopharyngeal competency Pharyngoplasty – for when the velum is working as well as it can, but the pharynx is too far away to make a good seal (velopharyngeal insufficiency) – creates a ‘speed bump’ to move the Secondary Surgical pharynx closer to the velum Grommets – alleviate middle ear Repairs infections Orthognathic Surgery – 18-20+ years of age Rhinoplasty – designed to change the shape of the nose Lip revisions – designed to change the shape of the lips  Cleft palate will often run right through the alveolar ridge What about Upper teeth can grow at unusual angles and locations requiring orthodontic and/or Teeth? surgical remediation Can be missing teeth (Hypodontia) Can be extra teeth (Hyperdontia) – may be in palate rather than alveolar gum area Teeth in bottom jaw may approximate to unusual positions to accommodate upper jaw teeth position Cleft palate cases may have a retracted maxilla (Class III malocclusion) – may require orthognathic surgery to correct Pierre Robin cases tend to have a retracted mandible (Class II malocclusion) Malocclusion Orthognathic Surgery Most major surgical procedure associated with cleft lip and palate Serves to fix class III malocclusion and its resulting bite, improve mid-face aesthetics and improve airway opening Involves cutting the maxilla, and repositioning it so it articulates correctly with the bottom jaw Screws and metal plates are then inserted to hold it in position while the bone heals into the new position Jaws are wired together during surgery (requires nasal intubation or “chintubation”) and banded together using elastics and/or powerchain for a few months after surgery Breastfeeding Breast is best. Fed is best. Children with cleft palate often can’t breastfeed as they are unable to create the suction necessary for breastfeeding For cleft lip, may be able to be fed by holding the child at a 90° angle so the breast tissue fills the gap allowing them to create the suction necessary to feed Not being able to breastfeed doesn’t necessarily mean no breast milk though – there are machines mothers can use to express milk if they desire, otherwise formula milk is okay The inability to breastfeed is typically more upsetting to the mother in terms of missed bonding opportunity than it is to the nutrition of the child Impact of Cleft on Feeding Special bottles are usually used such as Dr Browns bottles, MAM, the Pigeon or Haberman feeder. SLTs are typically the ones involved with the provision of these bottles for families affected by CLP. Bottles can supply formula or expressed breast milk. Important to establish a safe suck, swallow, breathe pattern  Otitis media is more common for children with cleft palate than the regular population due to the cleft exposing the Eustachian tube even more so than normal Impact on Grommets are often used to help Hearing with the resulting conductive hearing loss until such a time that they are no longer necessary Our UK study (Ardouin et al., 2021) found that hearing issues may persist well into adulthood  Considerations for Aotearoa New Zealand has one of the highest rates of CLP in the world Māori have the highest rate of isolated Cleft Palate in the world (although lower rates of CL and CLP) Aotearoa does not currently have routine Clinical Psychology provision for cleft Cleft Palate Speech  Cleft Lip Normal incidence of articulation errors once lip repair complete unless hearing difficulties remain – Implications possibly some issues with lip rounding if asymmetry or weakness for Speech in the obicularis oris remains Cleft Palate Cleft Palate Speech Cleft Palate Speech – Passive (Obligatory) Errors Incomplete Articulatory Surface For example, may have no place of articulation for /ʃ, ʒ, tʃ, θ, ð, j, t, d, s, z, n, l/  Cleft Palate Speech – Passive Errors Even after surgical repair, some structural abnormalities may persist – e.g. oronasal fistula, Class III malocclusion, missing teeth etc. Hearing difficulties may be a factor too. Cleft Palate Speech – Passive Errors Problems compound resulting is being unable to produce a wide range of phonetic variation → decreased phonetic inventory Example inventory: /p b k g f v w h r m a e i o u/  Velopharyngeal Insufficiency - caused by anatomical defects, such as the following: History of cleft palate or submucous cleft (overt or occult) Short velum or deep pharynx (cranial base Velopharyngeal anomalies) Insufficiency Irregular adenoids Enlarged tonsils (VPI) Following surgery or treatment: Adenoidectomy Maxillary advancement (Le Fort or distraction) Treatment of nasopharyngeal tumors (surgical or radiation) Cervical spine surgery through the mouth  Non-Pneumatic Closure - swallowing, gagging, and vomiting Closure is high in the nasopharynx and is exaggerated. Velopharyngeal Pneumatic Closure Closure Positive pressure: blowing, whistling, speech Negative pressure: sucking, kissing Closure may be complete for non-pneumatic activities and some pneumatic activities but may be insufficient for speech.  Hypernasality is increased or excessive nasal resonance heard on vowels and voiced consonants of a language. General Hierarchy: VPI often results in Mild Hypernasality – Limited to High Vowels Hypernasality Moderate Hypernasality – Extends to Low Vowels Severe Hypernasality – Extends to Voiced Pressure Consonants Profound Hypernasality – Nasal realisation of voiced pressure consonants  Hyponasality is decreased or reduced nasal resonance heard on vowels and nasal consonants of a language. Hyponasality may General Hierarchy: also be present in Mild Hyponasality – Limited to Vowels people with Marked Hyponasality – Extends to Nasal Consonants history of VPI Mixed Resonance is a combination of hypernasality on oral consonants and hyponasality on nasal consonants Abnormal Nasal Airflow - VPI Nasal Air Emission and/or Nasal Turbulence accompanied with and distorts any or all oral high-pressure consonants in a language – the greater the nasal emission, the weaker the consonants. Can be accompanied by shorter utterance length or an increased speaking rate due to less breath available Voice/Resonance Disorders: Abnormal Nasal Airflow Which one is which?  Weak or omitted consonants – nasal air emission reduces oral pressure, resulting in pressure consonants becoming weak or omitted – the larger the nasal emission, the greater the impact on consonants Short utterance length – when losing air pressure through the nose, respiratory Passive Speech effort is increased, requiring more breaths Errors thereby limiting the utterance length Nasalised phonemes – due to a moderate/large velopharyngeal opening. Placement of the phoneme is preserved, but manner unavoidably switches from oral to nasal due to the open VPI port  Due to a diminished phonetic inventory, many compensate for this by adding non-oral and non- native sounds to their repertoire which persist even after the structural deficits are repaired Cleft Palate Compensatory articulation - generally the manner of articulation is preserved, but the place Speech – Active of articulation is moved backwards. (Compensatory) Example inventory: /ɣ x ʔ m̥̃ ñ̥ w h r m n a e i o u/ ñ̥ = a nasalised, voiceless /n/ sound – used as a Errors replacement for /s/  Summarising Cleft Palate Speech Places of articulation Resonance issues Abnormal Nasal Compensatory compromised (VPI) Airflow Articulation Palate Hypernasality Nasal Emission Severely limited Alveolar ridge Hyponasality Nasal Turbulence phonetic inventory Velum Mixed Resonance → compensatory articulation Uvula  Assessment Tools Visual inspection of structures – look for fistula if history of cleft palate, look for submucous cleft if no history of cleft palate Nasal mirror test to look for nasal escape: count from 60- 70 To assess for hyponasality: count from 90-99 Assessment Repetition of pressure sensitive phonemes – e.g. pa, pa, pa Occlude the nose – this will inhibit nasal turbulence Narrow Transcription looking for presence of nasalisation and compensatory strategies Videofluoroscopy/nasendoscopy/MRI looking for velar closure/VPI Administer oral and nasal sentence lists – measure intelligibility  Patient Reported Outcome Measures (PROMs)  Help clinicians understand the priorities of a patient  Example measures include the Speech Distress and Speech Function subscales of CLEFT-Q or CLEFT-Q CAT  Could be used as an outcome measure pre and post treatment to evaluate efficacy of treatment  Could be used before routine clinic appointments (e.g. administered in the waiting room) to assess patient priorities  https://qportfolio.org/cleft-q/  SLT Treatment of Resonance Disorders SLT is indicated for treatment of VPI: if there is only a mild deficit demonstrated via imaging minimal gap in the velopharyngeal port or inconsistent closure based on direct observation patient is stimulable for reduction/elimination of nasality resonance disorder is due to compensatory articulation if hypernasal resonance is associated with oromotor dysfunction/dysarthria hypernasality occurs primarily when the patient is tired the patient has had secondary palatal surgery and needs therapy to increase lateral wall motion, or increase elevation of the palate during speech Treatment of Hypernasality – Biofeedback Can be achieved by using behavioural techniques/biofeedback – e.g. a nasal mirror for monitoring nasal emission, or a teaching stethoscope At home: a bendy straw running from a nostril to the ear can be used as a biofeedback tool – nasality sounds very loud in this situation. Ask the patient to attempt to reduce the sound coming through the straw  Treatment of Hypernasality Exaggerated articulation – increased motion of speech articulators may assist with increasing palatal closure through increased muscle activation Decreasing speaking rate may help improve velopharyngeal closure/coordination Auditory training – increase patient awareness of excessive nasal emissions - e.g. by occluding the nose/nares and trying to match the sound with the nose/nares unoccluded. If hypernasality persists after a few months, indicates a need for further assessment/consideration of surgical management.  Phoneme hierarchy in therapy: Train front sounds prior to back sounds Train voiceless sounds before voiced sounds Treatment of Basic articulation therapy rules apply (introduce sounds in developmental Compensatory hierarchy, begin with sounds in isolation then CV, VC and CVC contexts, etc.) Articulation Getting the patient to whisper will eliminate glottal stops Forward tongue placement will eliminate pharyngeal fricatives Quality of Life  Very subjective and hard to measure Based on medical outcomes? Based on immersion in everyday activities? – Quality of Life The ability to participate in a full and rewarding career? The ability to hold down a successful romantic relationship? Number of friends? Based on patient self-expectations? UK Adult Services Project  A three-year project (2018-2021) to investigate the needs and experiences of adults born with cleft  Used the data to develop an evidence base for delivering new support interventions  Partnerships with Centre for Appearance Research, National Health Service (NHS) and others to maximise the reach and impact of the work Emotional Wellbeing Almost half self- Low self-esteem/self reported a mental worth health disorder Many developed a Generally felt less longer-term sense of fulfilled at work resilience Physical Health Almost half Almost half experienced 3x the prevalence >50% had ongoing reported breathing unpleasant of hearing disorders speech disorders difficulties symptoms when eating/drinking Interpersonal Relationships 2/3 were in a Almost all >85% reported Self-perceived to romantic relationship, participants had having experienced have lower social lower self-perceived positive family and bullying and/or competence competence than friend relationships discrimination general population  Most people were happy with surgical experiences Treatment Experiences 2/3 were concerned about visiting the dentist Many had been told years ago they weren’t entitled to further treatment 35% had been offered a surgery which they later chose not to have Understanding the impact of cleft-related speech differences in NZ  How do Speech Differences in Cleft Impact Long-Term Vocational and Social Life Choices/Opportunities?  More concern with Speech Acceptability than Speech Intelligibility Findings – Most reported some ongoing cleft- Experiences related speech differences of Speech Some participants avoided activities which involved speaking Differences ~50% had received SLT input and SLT ~50% would see an SLT now for further intervention if available Findings – Impact on Educational, Workplace & Social Experiences Many had avoided Cleft could be Most had faced opportunities due to perceived as positive, prejudice in their cleft related neutral, or negative lifetime differences Strong family Cleft related Most thought about relationships and differences could their cleft when friendships, difficulty cultivate stronger meeting somebody establishing romantic friendships for the first time relationships.  Significant presence of psychological conditions Low self-esteem/self-worth were common Findings – Emotional Some engaged in risky or avoidant behaviours Wellbeing Very limited Clinical Psychology input Cleft was generally viewed as a lifelong condition No-one felt enough attention was given to the emotional wellbeing needs associated with cleft Policy Recommendations Development of a Cleft Provision and funding of Inclusion of Clinical Service Specification lifelong cleft care Psychology on Cleft Teams  What made me become a “You’ll be able to talk, but you need to realise, you’ll never make a career out of public speaking.” – cleft Speech Language Therapist? surgeon when I was 12. Recommended Summer Reading and Viewing (not in the exam!) Wonder – R. J. Palacio (can also watch the film if preferred!) Ugly – Robert Hoge I’ve Just Seen a Face – Amy Mendillo  Cleft Talk Panel Discussions – 2019 Season #2 – An overview of #3 – Relationships – #1 – Improving self- genetics and #4 – Decision Friendships and esteem and self- decision making making around Romantic confidence about having further treatment relationships children #6 – Jaw Surgery – #7 – Christmas #5 – Kissing, sex should I get it done? Special: The Best of and intimacy What can I expect if 2019 I do?  Cleft Talk Panel Discussions – 2020 Season #8 – Imposter #9 – Teething #10 – Cleft #11 – Physical Syndrome: Life Issues: All You Awareness Health & with “just” a Need To Know Week Emotional Wellbeing Q&A Cleft Palate About Dentistry Wellbeing Q&A #13 – Managing #14 – #15 – Christmas #12 – COVID-19 Bullying & Succeeding in Special/Season Special Discrimination the Workplace Finale