Evaluation and Management of Cleft and

A Developmental Perspective

David J. Zajac, PhD, CCC-SLP Linda D. Vallino, PhD, CCC-SLP/A Contents

Preface vii Acknowledgements ix Contributors xi

Part I. Fundamentals 1 1 Orofacial and Velopharyngeal Structure and Function 3 Jamie Perry and David J. Zajac 2 Clefts of the Lip and Palate 23 3 Syndromes and Associated Anomalies 49

Part II. Birth to Age Three 111 4 Feeding the Newborn 113 5 Presurgical and Surgical Management 129 6 Hearing and Otologic Management 151 7 Early Linguistic Development and Intervention 177 Nancy J. Scherer

Part III. Early to Middle School Age 191 8 Speech and Resonance Characteristics 193 9 Assessment of Speech and Velopharyngeal Function 227 10 School-Based Intervention 281 Dennis M. Ruscello 11 Secondary Management of Velopharyngeal Inadequacy 319 12 Alveolar Cleft Repair 339 Joseph A. Napoli

Part IV. Adolescents and Adults 355 13 Maxillary Advancement 357 Joseph A. Napoli and Linda D. Vallino 14 The Adult With Cleft Lip and Palate 379

Glossary of Terms 391 Index 401

v Preface

This book is intended to be a concise, To help achieve these goals, the mate- practical, and evidence-based text on cleft rial in the book is presented in a devel- lip and palate and related craniofacial opmental framework that emphasizes the disorders for advanced undergraduate most critical needs of the individual from students, graduate students, and profes- birth to adulthood. This organizational sionals in speech-language pathology. approach has both practical and concep- Students and professionals in related dis- tual advantages. Practically, it allows the ciplines such as dentistry, medicine, psy- reader to access information more read- chology, and social work also may find ily according to the age and presenting this book useful in providing information condition of the individual (i.e., birth, lip on individuals with craniofacial condi- repair, palate repair, alveolar cleft repair tions. Cleft palate with or without cleft or bone grafting, maxillary advancement). lip is a congenital defect that varies both Conceptually, it chronicles the lifelong in its severity and impact on facial and impact of craniofacial birth defects on the oral structures and communication. Treat- individual and elucidates the timing and ment of individuals is typically a long and rationale of surgical, dental, and behav- often-complicated process, extending into ioral interventions. early adulthood and beyond, that is best Part I provides necessary funda- accomplished in a team setting. In addition mentals for the student and professional. to the speech-language pathologist, other Chapter 1 reviews anatomy and physiol- team members typically include a plastic ogy of the facial, oral, and velopharyn- surgeon, dentist, orthodontist, oral and geal structures that are affected by clefts. maxillofacial surgeon, otolaryngologist, Chapter 2 describes the types and causes audiologist, geneticist, social worker, and of clefts with an emphasis on embryologi- psychologist. Even though all members cal development and classification. The of the team contribute to the habilitation controversy regarding timing of palate of the individual througout his or her repair is discussed from the perspective life span, certain team members assume of speech and language development. critical roles at specific times of life. The Chapter 3 provides an overview of genet- purpose of the book is to provide the stu- ics and the terminology used to catego- dent and professional in speech-language rize and identify congenital anomalies. pathology the information needed to (a) A select group of craniofacial anomalies evaluate and treat communication disor- most likely to be encountered by the pro- ders associated with cleft palate regard- fessional is reviewed. less of their primary place of employment Part II focuses on evaluation and (i.e., craniofacial team, hospital, school, or management of the individual from birth private practice), and (b) understand the to 3 years of age. Chapter 4 describes nor- complex — and sometimes controversial ​— ​ mal feeding physiology, feeding prob- surgical and dental management of indi- lems associated with cleft palate, and viduals across the life span. approaches to facilitate feeding prior to

vii viii Evaluation and Management of Cleft Lip and Palate: A Developmental Perspective palate repair. Chapter 5 describes presur- viduals affected in the United States is gical and surgical management of cleft lip relatively low. It is not unusual, therefore, and palate. Chapter 6 covers the almost for speech-language pathologists working universal occurrence of otitis media with in the schools to infrequently see children effusion and conductive hearing loss that with clefts. It is our hope that the materi- occurs in infants with cleft palate and cur- als in this book will be a valuable resource rent methods of management. Chapter 7 for school-based clinicians when they do reviews early linguistic development in encounter children with clefts. Some mate- infants with cleft palate and intervention rial traditionally covered in other texts is, strategies before and after palate repair. unfortunately, omitted in the book. Due to Part III focuses on evaluation and a goal to be concise and follow a develop- management of the individual from age mental framework, separate chapters on 3 throughout the middle school years. craniofacial team function and psycho- Chapter 8 describes the resonance, nasal social aspects of individuals with cranio- emission, articulation, voice, fluency, and facial anomalies are not included. These intelligibility characteristics of children are obviously important areas. We have, with repaired cleft palate. Chapter 9 pro- however, interweaved these materials in vides detailed coverage of perceptual various chapters throughout the book. assessment and an overview of instru- Maternal reactions to an infant born with mental assessment techniques. Chapter 10 a cleft are covered in Chapter 4, learning describes practical approaches to treat- disabilities of children with cleft palate ing children with articulation problems and treatment collaboration models with in the school setting. Chapter 11 presents teams are reviewed in Chapter 10, and the an overview of behavioral, surgical, and last chapter deals exclusively with quality prosthetic options to manage velopharyn- of life issues facing the adult. geal inadequacy that persists following Finally, the book has been written initial palate surgery. Chapter 12 describes with a goal to be concise and cite evidence- the orthodontic preparation and surgical based sources to support intervention correction of clefts of the alveolus. approaches. In some areas, there is little Part IV focuses on evaluation and man- objective evidence available to guide agement of adolescents and adults with cleft clinical decision making. In those areas, palate. Chapter 13 describes the rationale we note the lack of evidence and suggest and timing of maxillary advancement in directions for future research. It is our adolescents to improve facial aesthetics, hope that this book will not only inform dental occlusion, and articulation. Chapter but also challenge clinicians in speech- 14 discusses issues facing adult patients. language pathology to provide the best Although clefts of the lip and palate evidence-based evaluation and manage- are among the most frequently occurring ment of individuals with craniofacial birth defects, the actual number of indi- anomalies as possible. Acknowledgments

I am indebted to many who have contrib- I strived to emulate relative to scholar- uted either directly or indirectly to this ship and research productivity. Others at book. While at the University of Pitts- the University of North Carolina at Cha- burgh, I was fortunate to have Betty Jane pel Hill who have been influential include McWilliams as an early mentor. Dr. McWil- Amelia Drake, Tim Turvey, Gerald Sloan, liams, the first and longtime director of Wolf Losken (also at Pittsburgh), and the Cleft Palate Center, was an inexhaust- John van Aalst. They were instrumental ible clinician and researcher who first and in helping me understand surgical treat- foremost put the welfare of the patient ment of patients. above all else. I have been truly influ- I am most appreciative of Linda Val- enced by her wisdom, knowledge, and lino, co-author of the book, and Jamie caring. Campbell C. Yates and Raymond Perry, Nancy Scherer, Dennis Ruscello, Linville also were mentors at Pittsburgh. and Joseph Napoli, contributors to the Professor Yates, chair and emeritus pro- book. They are outstanding clinicians fessor of mechanical engineering, volun- and researchers in their respective areas. teered his time to establish aerodynamic This book would not be what it is without assessment procedures at the center. Pro- their input. A special thanks is also due fessor Yates helped me to understand and to Marziye Eshghi, Jacqueline Dorry, and appreciate the nuances of fluid dynamics Ramona Hutton-Howe for their help with when applied to the complex geometry of figures, tables, and photography. the human upper airways. Raymond Lin- On a personal note, I am indebted to ville, a mentor and friend, was influential my family for their support and encour- in guiding my early research endeavors. agement. They graciously endured count- Many colleagues have been influen- less dinnertime book conversations — and tial during the past 20 years at the Uni- dinners without me — during the writing versity of North Carolina at Chapel Hill. of the book. I am grateful to my loving Donald W. Warren, the Craniofacial Cen- wife, Robin, children, Jared and Rachel, ter’s first director, was a prolific researcher daughter-in-law Elizabeth, son-in-law, who applied aerodynamic techniques Matt, and grandson, William, for their to the evaluation of nasal and palatal encouragement. The thought of William’s function. Don was a role model whom wonderful smile was the best inspiration.

— David J. Zajac Chapel Hill, North Carolina

This book would not have been possible ing and doctoral degree at the University without the encouragement, mentor- of Pittsburgh, under the direction of Dr. ship, and friendship of some very special Betty Jane McWilliams. Dr. McWilliams people. Like David, I received my train- was the quintessential teacher, researcher

ix x Evaluation and Management of Cleft Lip and Palate: A Developmental Perspective and clinician. She cared deeply for her much from all of them. Over the years, patients and their families. I value all that these families allowed me the opportu- she has taught me. nity to be a part of their children’s care, I would like to express my grati- and trusted that I would always do the tude to Drs. William Garret (University best I could for them. I hope I have served of Pittsburgh), John B. Mulliken (Boston them well. Children’s Hospital), Ronald R. Zuker Thanks to Cindy Brodoway and (Hospital for Sick Children), and Joseph Brad Gelman, medical photographers A. Napoli (Nemours/Alfred I. DuPont at Nemours, for capturing the beautiful Hospital for Children) for teaching me smiles of some of the children shown in about cleft and craniofacial surgery and this book. enhancing my education. They are tal- My father always thought I should ented and compassionate surgeons. write a book, my mother agreed, and so I am appreciative of David Zajac, I wrote one. This book is for both of you. my colleague and friend, who graciously To my sister Rita, and brother-in-law, invited me to coauthor this book with Boyd — thank you always for caring about him, and our contributors, Jamie Perry, me. A special thank you to my wonder- Nancy Scherer, Dennis Ruscello, and ful family, Nicholas, Caroline, John, and Joseph Napoli. They are among the best Eleanor. You four are the best ever. Above at what they do. all, my heartfelt thanks to my husband, My patients and their caregivers have Joe for his endless love and support for also been my teachers. I have learned everything I do. It means the world to me.

— Linda D. Vallino Wilmington, Delaware Contributors

Joseph A. Napoli, MD, DDS Professor and Chair Associate Professor of Surgery Department of Speech and Hearing Sidney Kimmel Medical College Sciences Thomas Jefferson University Arizona State University Chief, Division of Plastic and Tempe, Arizona Maxillofacial Surgery Chapter 7 Nemours Children’s Clinic Director, Cleft Lip and Palate/ Linda D. Vallino, PhD, CCC-SLP/A Craniofacial Anomalies Program Head of the Craniofacial Outcomes Alfred I. duPont Hospital for Children Research Laboratory Wilmington, Delaware Center for Pediatric Auditory and Speech Chapters 12 and 13 Sciences Alfred I. duPont Hospital for Children Jamie Perry, PhD Wilmington, Delaware Associate Professor Professor of Pediatrics Department of Communication Sciences Sidney Kimmel Medical College and Disorders Thomas Jefferson University East Carolina University Philadelphia, PA Greenville, North Carolina Adjunct Associate Professor Chapter 1 University of Delaware Newark, Delaware Dennis M. Ruscello, PhD Professor of Communication Sciences David J. Zajac, PhD, CCC-SLP and Disorders Professor, Department of Dental Adjunct Professor of Otolaryngology Ecology West Virginia University Adjunct Associate Professor, Division Morgantown, West Virginia of Speech and Hearing Sciences, Chapter 10 Department of Allied Health Sciences University of North Carolina at Chapel Nancy J. Scherer, PhD, CCC-SLP Hill ASHA Fellow Chapel Hill, North Carolina

xi Part I Fundamentals 2 Evaluation and Management of Cleft Lip and Palate: A Developmental Perspective

We intend this book to serve as a roadmap of clefts that are commonly encountered in to the diagnosis and care of individuals the clinic. Special attention is given to sub- with orofacial clefts and other craniofacial mucous clefts as these may be subtle and conditions from birth through adulthood. difficult to identify. Causes of clefts and To do so, the speech-language patholo- epidemiology relative to prevalence and gist (SLP) and other health care providers recurrence are reviewed. Finally, Chapter must know certain fundamentals. Chapter 3, Syndromes and Associated Anomalies, 1, Orofacial and Velopharyngeal Structure provides an overview of genetics and the and Function, provides information on terminology used to categorize and iden- normal anatomy and physiology. Major tify congenital anomalies. A select group landmarks of the face, nose, and oral cav- of craniofacial anomalies that impact com- ity are identified, and detailed descrip- munication is presented. The information tions of the velopharyngeal muscles and in Part I sets the stage for the remainder functions are provided. Chapter 2, Clefts of the book. of the Lip and Palate, describes the types 1

Orofacial and Velopharyngeal Structure and Function

Jamie Perry and David J. Zajac

Introduction The Face

Orofacial clefts can involve structural The face is part of the skull that contains anomalies of the upper lip and gum ridge, the forehead and bony framework for the nose, , and to vari- eyes, nose, and mouth. Facial landmarks ous degrees. If a cleft is part of a syndrome of the nose and upper lip can be seen in or sequence, then additional craniofacial Figure 1–1. The nasion is the bony struc- anomalies may be present involving the ture at the root of the nose between the lower jaw, face, ears, and skull. In order to eyes. The nasal columella consists of skin understand the nature and management and underlying tissue that separates the of clefts — including embryological devel- nose into two nostrils. It courses from opment, anomalies at birth, impact on the anterior nasal spine (shown in Figure feeding, hearing and speech, and surgical 1–3) to the nasal tip. Nostrils, also called repair — the speech-language pathologist nares, are openings bounded laterally by must have a fundamental understanding a cartilaginous ala nasi (curved lateral of orofacial and velopharyngeal struc- portion of the nose) and alar rim (outer tures and function. The purpose of this rim). The alar base connects the alar rim chapter is to review (a) structures of the to the upper lip. The , also called face, nasal cavity, oral cavity, , philtral dimple or groove, is a midline and velopharynx that may be affected by indentation that courses from the nose clefts, and (b) velopharyngeal function of to the upper lip and is bounded laterally normal speech production. by the philtral ridges, also called philtral

3 4 Evaluation and Management of Cleft Lip and Palate: A Developmental Perspective

Figure 1–1. Facial landmarks.

columns. The philtral ridges are created tions such as filtering, humidification, and by fusion of the maxillary, medial nasal, temperature regulation of inspired air. Dur- and lateral nasal processes during embry- ing speech production, the nasal cavity also ological development (see Chapter 2). The functions as an air-filled resonator for nasal vermilion zone is the pigmented portion consonants (see Chapter 8). The smallest of the . The Cupid’s bow is defined by cross-sectional area of the nasal cavity is a double curve along the superior edge of called the internal nasal valve (Hixon, the upper lip. The white roll is a distinc- Weismer, & Hoit, 2008; Proctor, 1982). This tive landmark that surrounds the vermil- valve is located approximately 1 cm from ion zone. When a cleft of the lip occurs, the vestibule (entrance) of the nose and is symmetrical reconstruction of the Cupid’s bounded by the upper lateral cartilage, the bow presents a particular challenge for medial wall of the septum, and the anterior the surgeon (see Chapter 5). part of the inferior turbinate. The internal nasal valve provides the greatest resistance to inspired airflow, accounting for approxi- Nasal Cavity mately two-thirds of the total resistance of the nasal airway (Foster, 1962). Just before The nasal cavity consists of the airway entering the nasopharynx, the nasal airway from the nares to the nasopharynx (Fig- narrows again into a funnel-like structure ure 1–2). The nasal cavity is the first and called the choanae. last point of airflow to and from the lungs The nasal cavity is lined with mucous and provides important physiologic func- membrane that is continuous with the Orofacial and Velopharyngeal Structure and Function 5

Figure 1–2. Lateral view of the nasal cavity, oral cavity, and nasopharynx and related structures.

pharynx and oral cavity. The lateral walls nate and through the middle nasal meatus of the nasal cavity are made up of three to obtain a view of the nasal surface of bones called nasal turbinates or nasal the velum. conchae (see Figure 1–2). The superior The midline nasal septum consists of and middle nasal turbinates are part of cartilage and bone. Specifically, the sep- the ethmoid bone and the inferior turbi- tum contains the single unpaired vomer nate articulates with the maxilla anteri- bone, perpendicular plate of the ethmoid orly and the palatine bone posteriorly. bone, and septal (quadrangular) cartilage The mucous-covered turbinates function (Figure 1–3). The septal cartilage connects to warm and moisten incoming air. The to the nasal columella forming the ante- grooves formed under each turbinate rior portion of the nasal septum. In an are called nasal meatuses. Proctor (1982) unrepaired cleft palate, the vomer bone refers to the middle and inferior meatuses can be visualized during oral inspection and turbinates as the “main nasal airway” (Figure 1–4). and the area above the middle turbinate The floor of the nasal cavity — which as the “olfactory airway.” As discussed also forms the roof of the mouth — is made in Chapter 9, clinicians attempt to pass a up of the bones of the hard palate. A bony nasal endoscope over the inferior turbi- ridge, called the nasal crest, runs the 6 Evaluation and Management of Cleft Lip and Palate: A Developmental Perspective

Figure 1–3. Structures of the midline nasal septum.

Figure 1–4. Oral view of a complete cleft palate. Note the midline nasal septum visible through oral inspection. length of the superior nasal surface of the ever, the vomer bone does not attach to hard palate and serves as the attachment the hard palate when a complete bilateral of the nasal septum (vomer bone) to the cleft of the secondary palate occurs (see nasal floor. As shown in Figure 1–4, how- Chapter 2). Orofacial and Velopharyngeal Structure and Function 7

Oral Structures Hard Palate

The hard palate is the bony structure that Figure 1–5 shows structures of the oral forms the floor of the nasal cavity and roof cavity. The palate consists of hard bony of the oral cavity. During embryological and soft muscular parts. The soft palate, development, the hard palate evolves also called the velum, extends beyond the from two vertical shelves of bone that ele- hard palate and terminates at the uvula. vate and fuse in the midline (see Chapter 2, As seen in Figures 1–2 and 1–5, the ante- Figure 2–12). The line of fusion is called the rior and posterior faucial pillars attach median palatine suture, or the intermaxil- the soft palate to the and pharynx, lary suture (Figure 1–6). The bony hard respectively. The palatoglossus muscle palate is divided into the premaxilla, pal- courses inferiorly through the anterior atine processes, and palatine bones. The faucial pillar, while the palatopharyngeus premaxilla is anterior to the incisive fora- muscle courses inferiorly through the men and contains the central and lateral posterior faucial pillar (see Figure 1–8). incisors. The incisive foramen is a small Between the two pillars is the faucial isth- opening that passes nerves (nasopalatine mus, where the palatine tonsils can be nerve) and blood vessels (sphenopalatine found. are located on the artery) to the of the hard pal- base of the tongue (not visible in Figure ate. The premaxilla is separated from the 1–5). The alveolar ridge is the raised por- palatine processes by the incisive sutures. tion of the upper and lower dental arches, As discussed in Chapter 2, the premax- which provides support for the teeth. illa fuses to the palatine processes along

Figure 1–5. Oral structures.