Handbook of Genetic Counseling/Velopharyngeal Inadequacy (VPI)

Velopharyngeal Inadequacy (VPI) Contracting What have you been told about VPI? What concerns would you like to address today? Discuss the agenda for the appointment Dr. Doktour - geneticist Dr. Doktour2 - ENT Dr. Doktour3 - speech pathologist Intake and family history Important because we need to determine if VPI is isolated or is part of a genetic syndrome To ensure best medical treatment of any possible effects of a genetic condition To determine inheritance pattern and recurrence risks Ask about exposures/medications/illnesses during pregnancy Elicit medical history Ask about family history of clefts, birth defects, heart problems, learning problems, early deaths, miscarriages Genetic etiology and natural history Caused by inadequacy of velopharyngeal valve to close during speech The velum (soft part of palate in back of mouth) separates the oral cavity from the nasal cavity Normally the valve is open to allow air to flow, but it should close during speech Muscles in pharynx (throat) also contract to move its walls inward VPI occurs if velum is not long enough to cover the hole, the pharynx is too wide, or the muscles in the velum or pharynx are not strong enough to close Terminology Velopharyngeal Inadequacy - general term for velopharyngeal dysfunction Velopharyngeal Insufficiency - anatomical or structural defect that prevents adequate velopharygeal closure Velopharyngeal Incompetence - neuromotor or physiological disorder resulting in poor movement of structures Velopharyngeal mislearning - inadequate closure secondary to faulty learning of appropriate articulation patterns Occurs often in individuals with history of cleft palate or with a submucous cleft May be associated with genetic syndrome or underlying congenital anomaly Velocardiofacial syndrome (VCF) About 20% of individuals with VPI are diagnosed with VCF in this clinic Highly variable condition: Conotruncal heart defects (50%) Tortuosity and medial displacement of carotidarteries Characteristic facies: Microcephaly Narrow palpebral fissures Wide nasal root Bulbous nasal tip Vertical maxillary excess Thin upper lip Long face Micrognathia Minor auricular anomalies Short stature (below 10th percentile) Kidney or urinary tract anomalies DiGeorge sequence Hypotonia Learning problems or mental retardation Behavioral problems FISH studies find deletion of 22q11 for 90% of patients Stickler syndrome Most common cause of cleft palate Autosomal dominant with various expressivity Classical presentation Pierre Robin sequence Early onset osteoarthiritis Severe myopia and retinal detachments Sensorineural and conductive hearing loss Characteristic facies Micrognathia in infancy Flat facial profile Epicanthal folds Midface hypoplasia Flat nasal bridge Development usually normal Diagnosis usually made clinically because genetically heterogeneous May be due to teratogenic exposure during pregnancy Critical period for palatal development from weeks 8-11 Includes viruses, drugs, infections, and radiation Clinical features Hypernasality Nasal air emission Weak or omitted consonants Short utterance length Altered rate and speech segment durations Compensatory and obligatory articulation productions Nasalization of oral consonants Glottal stop Nasal sniff Breathiness Assessment Done by multidisciplinary team Perceptual speech assessment Listen to speech and observe facial movements during articulation Detect abnormal air flow through nose Nasometry Airflow measures Endoscopy Allows visualization of valving mechanism during speech Pass flexible tube through nasal passages Multiview videofluoroscopy For children too young for endoscopy May require barium for contrast Management Nonsurgical Mild VPI cases Speech therapy to improve articulation and strengthen closure patterns Prosthetic devices For patients who cannot undergo surgery or are not helped by repeated surgeries Obturator (dental prosthesis) that extendsinto velopharyngeal space and closes valve when pharyngeal walls move inward Palatal lift lifts soft palate into position so that velum is close to pharyngeal walls if palatal motion is not sufficient Surgical Recommended when possible Usually performed around 4-5 years old To prevent abnormal leakage of air through faulty valve Pharyngeal flap Create flap of mucous membrane and muscle from back of throat to soft palate Small openings remain on either side to allow air to move through nose Must be careful of abnormally placed carotid arteries in kids with VCF Sphincter pharyngoplasty Repositioning muscles that run vertical from soft plate to sides of pharynx Not as common Children require close monitoring after surgery Healing takes about 1 year Still may require speech therapy Psychosocial Issues Feelings about the diagnosis (anxiety, fear, guilt, depression, relief) Support - family, friends Disruption of school, family life for management Resources The Cleft Palate Foundation Phone: 1-800-24-CLEFT Web: http://www.cleft.com Provides local support groups, brochures, and fact sheets Velo-Cardio-Facial Syndrome Education Foundation Phone: 1-315-464-6590 Web: www.vcfsef.org Email: vcfsef@hscsyr.edu Stickler Involved People Phone: 1-316-775-2993 Web: www.sticklers.org Email: sip@sticklers.org References Doktour3 AW. Velopharyngeal Dysfunction (VPD) and Resonance Disorders. From Cleft Palate and Craniofacial Anomalies: The Effects on Speech and Resonance (2001) 145-171. McDonald-McGinn DM, Finucane B, and Zackai EH. Faces of Sunshine: The 22q11.2 Deletion. Children's Hospital of Philadelphia (2001). Doktour HM. The Genetics Evaluation and Common Craniofacial Syndromes. From Cleft Palate and Craniofacial Anomalies: The Effects on Speech and Resonance (2001) 73-100. Web: www.geneclinics.org "Stickler Syndrome" and "22q11 Deletion Syndrome." Notes The information in this outline was last updated in 2002.