Cleft Palate

CASE: Cleft Palate S.M.P. BW 3140 g Full term via stat cesarean section due to NRFHRP 28 year old G1P1 (0101) 39 1/7 weeks AOG, MT 38 AGA Apgar 9, 9 BW 3140 g BL 51 cm HC 34 cm CC 34 cm AC 30 cm Aileen Elbo Dailo November 19, 2013 Under Dra. M. Saludares Normal CAS (August 28, 2013) and 2d echo Homemaker, college graduate, no vices HPI: asymptomatic

Personal/Social History OB History: Feeding history Maternal History: UTI- 1st trimester, treated with cefuroxime Past Medical History: (+) asymptomatic MVP Family History: Diabetes, Hypertension, Heart disease, Stroke Personal/Social History Unremarkable OB History: G1 – present pregnancy Feeding history Mixed feeding, expressed breastmilk+milk formula

Physical Findings Thinly meconium-stained amniotic fluid Flat fontanels No molding Cleft palate (-) alar flaring Good air entry, no retractions HR 150bpm, Good cardiac activity, Soft abdomen Grossly female genitalia Full pulses

Diagnosis Live Term Baby Girl Cleft palate

PLAN NPO ENT Referral Therapeutics: Obturator fitting c/o pedia dentist OGT feedings Feeding plate Breast feed as tolerated Strict aspiration precautions

Course in the NICU Subjective Day 1 of life Tolerates milk formula (10-15 ml every 2 hours) Active No vomiting or regurgitation 5 urine output 3 meconium passages Objective T – 36.8 C HR 146 bpm RR 49 cpm Weight 3020 g (+) cleft palate OGT at level 17 Good air entry Good cardiac tone, no murmurs Soft abdomen Full pulses Assessment Term baby girl Cleft Palate, Incomplete Plan Continue feedings Referral to pedia dentist

Course in the NICU Subjective Day 2 of life Tolerates milk formula (15-20 ml every 2 hours) Active No vomiting or regurgitation 5 urine output 6 meconium passages Objective T – 36.9 C HR 145 bpm RR 49 cpm (+) cleft palate Good air entry Good cardiac tone, no murmurs Soft abdomen Full pulses Assessment Term baby girl Cleft Palate, Incomplete Plan Pedia dentist: No need for obturator plate at this time Referral to maxillofacial surgeon For obturator fitting as outpatient pending surgical intervention Adivsed proper feeding position with dropper or soft baby bottle with nipple. BF is encouraged FF-up as soon as 1st tooth erupts

Cleft Palate Failure of the palatal shelves to fuse Cleft palate: 1 in 2500 (Caucasians) Cleft lip+/- cleft palate: 1 in 750 Cleft palate: Females > Males Cleft lip: Males > Females Syndromes associated w/ Cleft Lip +/- cleft palate : >200 Ethnic factors (Cleft lip +/- cleft palate) Native Americans (1 in 230 to 1,000) Asians (1 in 400 to 850) African Americans (1 in 1,300 to 5,000) Incidence of associated congenital malformations and of impairment in development is increased: Cleft palate alone > cleft lip Most common in Native Americans (1 in 230 to 1,000) and Asians (1 in 400 to 850) least common in African Americans (1 in 1,300 to 5,000) Samanich, J. Cleft Palate . Pediatrics in Review 2009;30;230

Clefting Defects between the 6th and 9th weeks AOG primary palate begins to form at about 35 days complete lip development by the 6th week palatal fusion follows Cleft lip: interruption or hypoplasia of the mesenchymal layer  failure of fusion of the medial nasal process, maxillary process, and lateral nasal process (unilateral or bilateral) Cleft palate: palatal shelves fail to fuse Multifactorial traits: Genetic: mutations in single genes (TBX22, IRF6, MSX1); Part of chromosomal aneuploidy or deletion syndromes (trisomy 13, velocardiofacial syndrome), and others result from. environmental factors: teratogens (anticonvulsants) Most common in Native Americans (1 in 230 to 1,000) and Asians (1 in 400 to 850) least common in African Americans (1 in 1,300 to 5,000) Samanich, J. Cleft Palate . Pediatrics in Review 2009;30;230

Cleft Palate Occurs in the midline and might involve only the uvula or can extend into or through the soft and hard palates to the incisive foramen When associated with cleft lip: involve midline of the soft palate and extend into the hard palate on one or both sides, exposing one or both of the nasal cavities as a unilateral or bilateral cleft palate Can also have a submucosal cleft indicated by a bifid uvula, partial separation of muscle with intact mucosa, or palpable notch at the posterior of the palate Kliegman et al. 2011. Nelson’s Textbook of Pediatrics. 19th Edition

Pierre Robin sequence (PRS) micrognathia (small mandible) retropositioned tongue U-shaped cleft palate failure of the mandible to grow properly  positioning of the tongue in the back of the pharynx  blocks the ability of the palatal shelves to fuse properly severe respiratory distress: mortality rate as high as 30% careful monitoring: first 1 to 4 weeks over time, the lower jaw generally “catches up” in growth vs. surgical intervention (jaw expansion) isolated birth defect, but may be part of syndromes such as trisomy 18 or Stickler syndrome An important type of clefting defect to recognize in the neonatal period is Pierre Robin sequence (PRS), which includes micrognathia (small mandible), a retropositioned tongue, and a U-shaped cleft palate. The initial embryologic event is believed to be failure of the mandible to grow properly, leading to positioning of the tongue in the back of the pharynx, which blocks the ability of the palatal shelves to fuse properly. Affected children often experience severe respiratory distress, leading to a mortality rate as high as 30% and requiring interventions ranging from prone positioning to allow the tongue to fall forward out of the airway to intubation and tracheostomy. Children who have PRS require careful monitoring, particularly in the first 1 to 4 weeks after birth. Over time, the lower jaw generally “catches up” in growth, but sometimes surgical intervention is required for jaw expansion. PRS generally occurs as an isolated birth defect, but may be part of syndromes such as trisomy 18 or Stickler syndrome. Samanich, J. Cleft Palate . Pediatrics in Review 2009;30;230

Trisomy 18 Edward’s Syndrome second most common autosomal trisomy after trisomy 21 severe psychomotor and growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia or retrognathia, microstomia, distinctively clenched fingers, and other congenital malformations

Stickler Syndrome distinctive facial appearance, eye abnormalities, hearing loss, and joint problems somewhat flattened facial appearance underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose High myopia, glaucoma, cataracts, retinal detachment Hearing loss Loose or hypermobile joints, arthritis, scoliosis, khyphosis, platyspondyly

Velocardiofacial Syndrome structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development DiGeorge Syndrome (10%) at least 2 of the following features: Conotruncal cardiac anomaly Hypoparathyroidism, hypocalcemia Thymic aplasia, immune deficiency Velo: cleft palate Cardio: interrupted aortic arch type B (50%),truncus arteriosus (34.5%) and tetralogy of Fallot (16%). Other cardiac defects include pulmonary atresia with ventricular septal defect Facial:

Pediatrics in Review 1988;9;331 Lorraine Suslak and Franklin Desposito Infants with Cleft Lip/Cleft Palate

Cleft Palate: Treatment Immediate problem: Feeding Difficulty creating sufficient suction in the mouth to complete a feeding without tiring Soft artificial (cross-cut) nipples with large openings, a squeezable bottle Plastic obturator Small, frequent feedings, not longer than 30mins Burped 2-3x during a feeding: bottle positioned as upright as possible to avoid air in the nipple, or fed with an angled bottle Timing of surgical correction is individualized Width of the cleft Adequacy of the existing palatal segment Morphology of the surrounding areas Neuromuscular function of the soft palate and pharyngeal walls Complete rehabilitation can require years of special tx by a team consisting of a pedia, plastic surgeon, ent, oral and maxillofacial surgeon, pedia dentist, prosthodontist, orthodontist, speech therapist, geneticist, medical social worker, psychologist, and public health nurse Parents have the added concern that the baby must gain weight before the cleft can be repaired Infants who have a CP have a connection between the mouth and the nose and, therefore, have difficulty creating sufficient suction in the mouth to complete a feeding without tiring. Often they are unable to obtain enough nutrition by breastfeeding alone. Mothers should be encouraged to try breastfeeding, but if weight gain is poor,supplementation with a bottle, ideally using pumped human milk, will be needed. SWALLOW MORE AIR: should be burped two to three times during a feeding, with the bottle positioned as upright as possible to avoid air in the nipple, or fed with an angled bottle. be cautioned not to stop for too long in the middle of the feeding to burp the baby or the infant may lose interest in completing the feeding squeezable bottles, which allow them to provide the force for giving a mouthful of milk to the baby, rather than having the baby suck to provide the force 3 months of age when the infant has shown satisfactory weight gain and is free of any oral, respiratory, or systemic infection. Modified Millard rotation-advancement technique: a staggerred suture line minimizws notching of the lip and retraction of scar tissue

Cleft Palate: Treatment Cleft lip: “rule of 10s”– 10lbs, 10 weeks old, and hgb of 10.0 g/dL Goals of surgery: Union of the cleft segments Intelligible and pleasant speech Reduction of nasal regurgitation Avoidance of injury to the growing maxilla Cleft palate: Usually by 1 year of age (speech development) Furlow double-opposing Z-plasty (most common) may need revisions as they grow older When delayed beyond 3rd year: a contoured speech bulb can be attached to the posterior of the maxillary denture Cleft palate: usually crosses the alveolar ridge and interferes with teeth formation in the anterior maxillary region May be displaced, malformed, or missing (replaced by prosthetics) When delayed beyond 3rd year: a contoured speech bulb can be attached to the posterior of the maxillary denture So that contraction of the pharyngeal and velopharyngeal muscles can bring tissues into contact with the bulb to accomplish occlusion of the nasopharynx and help the child develop intelligible speech. Kliegman et al. 2011. Nelson’s Textbook of Pediatrics. 19th Edition Samanich, J. Cleft Palate . Pediatrics in Review 2009;30;230

Cleft Palate: Treatment Postoperative management: gentle aspiration of nasopharynx (minimizes atelectasis or pneumothorax which are common complications) Maintenance of clean suture line and avoidance of tension on the sutures Bottle-fed with arms restrained and with elbow cuffs Fluid or semi-fluid diet for 3 wks Hands, toys, and other foreign bodies are kept away from the surgical site Kliegman et al. 2011. Nelson’s Textbook of Pediatrics. 19th Edition

Cleft Palate: Sequelae Recurent otitis media and subsequent hearing loss Displacement of maxillary arches and teeth malposition Misarticulations and velopharyngeal dysfunction (10-20% after repair) Emission of air from the nose Hypernasal quality Compensatory misarticulations (glottal stops) Middle ear infection: anomalies of the insertion of the tensor and levator veli palatini muscles into the eustachian tube, affected children are unable to open and ventilate the middle ear adequately Speech defect: inadequacy of palatal and pharyngeal muscles After CP repair, about 10% to 20% of patients experience velopharyngeal insufficiency, a phenomenon in which the soft palate cannot form a tight closure with the pharynx, causing air to escape through the nose rather than being directed through the mouth during speech. This effect manifests as audible nasal air escape and as hypernasal resonance during speech, particularly when making the s, z, sh, f, p, and b sounds. Affected children may develop maladaptive compensatory articulation errors for these sounds, making their speech more difficult to understand. Children who have CP also may have speech problems caused by dental malocclusion from the cleft or from fistula formation after surgery. Fistulas can develop between the oral and nasal cavities, leading to air escape during speech and to regurgitation of food or liquids through the nose. Surgical correction of velopharyngeal insufficiency, fistula, or other structural anomalies generally is necessary before speech therapy, an integral part of treatment for the child who has CP, can be successful. Kliegman et al. 2011. Nelson’s Textbook of Pediatrics. 19th Edition Samanich, J. Cleft Palate . Pediatrics in Review 2009;30;230