Anatomy Quiz: Nasal Cavity and Velum
98 Questions
9 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

This landmark is the area that is posterior to the nasal cavity and above the velum

  • Nasopharynx (correct)
  • Oropharynx
  • Laryngopharynx
  • Pharynx

    • The top of the tongue is also known as this surface.

  • Hard palate
  • The base
  • The dorsum (correct)
  • The root

    • Another name for the anterior portion of the hard palate is the triangular-shaped bony primary palate or premaxilla which, embryologically, develops separately from the rest of the palate

  • Premaxilla (correct)
  • Palatal vault
  • Hard palate
  • Incsive foramen

    • These muscles do not insert into bone or cartilage they insert into each other in the soft palate They take up approximately 40% of the velum. Contraction of this muscle causes the soft palate/velum to move in a superior and posterior direction

    <p>Levator veli palatini</p> Signup and view all the answers

    This muscle makes up the posterior faucial pillars. It elevates and widens the pharynx when swallowing and lowers the velum.

    <p>Palatopharyngeus</p> Signup and view all the answers

    Velopharyngeal ______ is due to insufficient tissues, as with cleft palate.

    <p>Insufficiency</p> Signup and view all the answers

    Velopharyngeal ______ is due to a neurological and/or muscular disorder so that the velum, LPW and PPWs do not move well. The velum may be long enough, but it does not elevate well, or it fatigues (associated with neurogenic paralysis or paresis)

    <p>Velopharyngeal incompetence</p> Signup and view all the answers

    This type of resonance results in too much nasal resonance, and too little oral resonance, for oral sounds

    <p>Hypernasality</p> Signup and view all the answers

    With this type of resonance, the nasal sounds resonate in the nasal cavities, however, due to an obstruction distal to the VP port (the end of the nose near the nostrils, is blocked), the nasal sounds cannot escape out of the nostrils

    <p>Nasal cul-de-sac</p> Signup and view all the answers

    The velopharynx should be closed when producing nasal phonemes

    <p>False</p> Signup and view all the answers

    What are some feeding difficulties that can arise secondary to cleft palate?

    <p>Difficulty building up negative pressure within the mouth for efficient feeding patterns Inability to maintain negative pressure because there is no closed intraoral environment Food/liquid may be lost through cleft and come out nose Tongue may rest in open hole</p> Signup and view all the answers

    What are some feeding difficulties that can arise from a cleft lip?

    <p>Decreased contact to nipple Decreased ability for the lips to conform to the shape of the breast/bottle Interference forming positive pressure for sucking</p> Signup and view all the answers

    What are some signs of stress during feeding?

    <p>Signs of stress can include coughing or choking during the meal Kicking out and widely stretching the arms and legs Stress signs can be less obvious such as difficulty breathing or changes in breathing patterns while drinking Fingers widely stretches or bringing fingers to the mouth</p> Signup and view all the answers

    What are some tips for feeding babies with cleft palate?

    <p>Always feed in an upright position, whether it is from a breast or bottle Burp the child every five minutes Keep the child upright or seated for 20-30 minutes after each meal Your child should drink approximately 2 oz. of milk for every half kilogram of weight Feed your baby in small and frequent doses Position the nipple in the baby’s mouth where there is no cleft/hole After the meals clean your baby’s mouth and nose with a soft, damp cloth Pay attention to stress signs Try to use a softer nipple and bottle to control the flow of the liquid</p> Signup and view all the answers

    Breastfeeding is possible with incomplete and complete cleft lip with modifications. Name some of these modifications.

    <p>Upright positioning for gravity assistance Mold breast to shape of oral cavity May need to supplement with bottled breast milk or formula Refer to feeding specialist or lactation consultant</p> Signup and view all the answers

    When looking at the causes of cleft lip and palate, this means that there is a genetic predisposition for the cleft to occur.

    <p>Endogenous</p> Signup and view all the answers

    Environmental agents that interfere with or interrupt normal fetal development

    <p>Teratogens</p> Signup and view all the answers

    A genetic alteration that is present for the first time in one family member

    <p>De-novo</p> Signup and view all the answers

    A _____ condition is one in which only one abnormal gene on the pair of non-sex chromosomes results in abnormal phenotype.

    <p>Autosomal dominant</p> Signup and view all the answers

    For this condition to occur both parents must have an abnormal gene

    <p>Autosomal recessive</p> Signup and view all the answers

    What is the primary cause of congenital anomalies such as clefting?

    <p>A combination of genetic and environmental factors</p> Signup and view all the answers

    This type of cleft palate is muscular and occurs beneath a membranous covering

    <p>Sub-mucous cleft</p> Signup and view all the answers

    The most severe type of cleft due primarily to a severe tissue deficiency

    <p>Bilateral cleft lip and palate</p> Signup and view all the answers

    The majority of orofacial clefts are non-syndromic.

    <p>True</p> Signup and view all the answers

    The majority of orofacial clefts are non-syndromic.

    <p>Mandibular process x 2 Frontonasal process Maxillary process x 2</p> Signup and view all the answers

    What are 2 typical signs of submucous cleft?

    <p>Bifidi uvula + zona pellucida Other signs and symptoms: hyper-nasality, NAE for non-nasal sounds, and nasal regurgitation</p> Signup and view all the answers

    What is a potential consequence of the flow of milk being too fast during feeding?

    <p>Inability to maintain the suckle-breathe-swallow rhythm</p> Signup and view all the answers

    This chromosomal disorder is the most common cause of intellectual disability.

    <p>Down syndrome</p> Signup and view all the answers

    This syndrome affects females and the most common trait is short stature. Most individuals have normal intelligence.

    <p>Turner Syndrome</p> Signup and view all the answers

    Some clinical features of ______ syndrome include: low muscle tone, smaller head with back of the head slightly flattened (brachycephaly), upward slant of the eyes with epicathal folds

    <p>Down Syndrome</p> Signup and view all the answers

    This syndrome is characterized by craniosynotosis of the coronal sutures, the midface is markedly deficient resulting in insufficient orbital support for the eyes and maxilla; cleft palate and submucous cleft are rare

    <p>Crouzon Syndrome</p> Signup and view all the answers

    Micrognathia ,glossoptosis, and upper airway obstruction must be included in the diagnosis of this disorder. Cleft palate, a secondary condition is frequently encounter but is not considered a prerequestie for the diagnosis.

    <p>Pierre-robin sequence</p> Signup and view all the answers

    List 3 features of Pierre Robin Sequence

    <ol> <li>Micrognathia</li> <li>Glossoptosis</li> <li>Cleft palate</li> </ol> Signup and view all the answers

    What is the role of the frontonasal process in facial development?

    <p>It is essential for the fusion of the frontonasal masses and maxillary processes.</p> Signup and view all the answers

    At what point during gestation does the fusion of the facial structures primarily occur?

    <p>Between the 5th and 8th weeks</p> Signup and view all the answers

    What is the consequence of interrupted fusion between the frontonasal masses and maxillary processes?

    <p>Creation of a cleft lip</p> Signup and view all the answers

    What structures are included in the secondary palate during its development?

    <p>Bony hard palate and soft palate</p> Signup and view all the answers

    During which weeks of gestation does fusion of the hard and soft palate occur?

    <p>Between the 8th and 12th weeks</p> Signup and view all the answers

    What distinguishes a complete cleft lip from an incomplete cleft lip?

    <p>The bony structures of the anterior alveolar ridge are also involved.</p> Signup and view all the answers

    Which statement regarding cleft palate is true?

    <p>It is often associated with speech difficulties.</p> Signup and view all the answers

    What is a characteristic feature of a submucous cleft?

    <p>Presence of a bifid (split) uvula.</p> Signup and view all the answers

    What differentiates a bilateral cleft lip and palate from a unilateral cleft lip and palate?

    <p>More severe due to tissue deficiency.</p> Signup and view all the answers

    What is a potential consequence of a cleft lip or palate?

    <p>Difficulty managing oral feeding.</p> Signup and view all the answers

    Which statement accurately describes the incidence of clefts in demographics?

    <p>Certain ethnic groups, such as Asian and Native American, show higher incidence of clefts.</p> Signup and view all the answers

    What is a common feeding challenge for infants with cleft palate?

    <p>Nasal regurgitation due to poor suction.</p> Signup and view all the answers

    What type of hearing issue is commonly associated with individuals who have cleft palate?

    <p>Conductive hearing loss and frequent otitis media.</p> Signup and view all the answers

    Which factor is a teratogen that may induce cleft disorders?

    <p>Exposure to alcohol during pregnancy.</p> Signup and view all the answers

    What is the expected outcome for children with clefts in terms of speech and language skills?

    <p>They may exhibit shorter mean length of utterance (MLU).</p> Signup and view all the answers

    Which bottle type is specifically designed for babies with weak oral-motor skills?

    <p>Mead-Johnson Cleft Lip/Palate Nurser</p> Signup and view all the answers

    What is a primary recommendation for feeding infants after they have eaten?

    <p>Keep the child upright for 20-30 minutes.</p> Signup and view all the answers

    Which feeding option is associated with a customizable flow rate?

    <p>Pigeon Bottle</p> Signup and view all the answers

    What is a common risk factor for hearing loss in children with cleft palate?

    <p>High probability of otitis media.</p> Signup and view all the answers

    Which nipple type is known to control milk flow based on the baby's compression?

    <p>Haberman Feeder</p> Signup and view all the answers

    What is the primary chromosomal abnormality associated with Down syndrome?

    <p>Trisomy 21</p> Signup and view all the answers

    Which of the following medical issues is most common in individuals with Down syndrome?

    <p>Congenital heart disease</p> Signup and view all the answers

    What is a common visual problem associated with Down syndrome?

    <p>Cataracts</p> Signup and view all the answers

    Which of the following physical characteristics is typically NOT associated with Down syndrome?

    <p>Long limbs</p> Signup and view all the answers

    Which of the following speech and language issues is prevalent in individuals with Down syndrome?

    <p>Reduced intelligibility</p> Signup and view all the answers

    What is the most common feature of Turner Syndrome?

    <p>Short stature</p> Signup and view all the answers

    What is a common cognitive deficit associated with Turner Syndrome?

    <p>Spatial relationship difficulties</p> Signup and view all the answers

    Which treatment is commonly used to manage Turner Syndrome?

    <p>Growth hormone therapy</p> Signup and view all the answers

    What is the typical genetic characteristic of Turner Syndrome?

    <p>Single X chromosome loss</p> Signup and view all the answers

    Which of the following is NOT typically a feature of Turner Syndrome?

    <p>Early onset of puberty</p> Signup and view all the answers

    What primarily causes glossoptosis in individuals with Pierre Robin Sequence?

    <p>Small, retracted mandible</p> Signup and view all the answers

    What is the incidence rate of isolated Pierre Robin Sequence in the general population?

    <p>1 in 8,500 to 14,000 people</p> Signup and view all the answers

    Which surgical management technique is commonly used to address airway obstruction in Pierre Robin Sequence?

    <p>Tracheostomy</p> Signup and view all the answers

    Which of the following conditions is NOT considered part of Pierre Robin Sequence?

    <p>Esophageal atresia</p> Signup and view all the answers

    What is a characteristic management strategy for infants with feeding difficulties due to Pierre Robin Sequence?

    <p>Prone positioning during feeding</p> Signup and view all the answers

    What primary feature of Pierre Robin Sequence can lead to airway obstruction during sleep?

    <p>Glossoptosis</p> Signup and view all the answers

    Which of the following best explains why Pierre Robin Sequence is described as a 'sequence'?

    <p>One abnormality triggers subsequent complications.</p> Signup and view all the answers

    What is a common management strategy for infants suffering from airway obstruction due to Pierre Robin Sequence?

    <p>Prone positioning and airway support</p> Signup and view all the answers

    What genetic cause is most commonly associated with Pierre Robin Sequence?

    <p>Changes near the SOX9 gene on chromosome 17</p> Signup and view all the answers

    What role does a Speech-Language Pathologist (SLP) play in managing patients with Pierre Robin Sequence?

    <p>Evaluate and therapy for feeding and resonance disorders</p> Signup and view all the answers

    What is a common developmental issue associated with Apert Syndrome?

    <p>Hearing loss</p> Signup and view all the answers

    What surgical procedures are typically included in the treatment of Apert Syndrome?

    <p>Craniosynostosis release and midface advancement</p> Signup and view all the answers

    Which statement regarding the genetic inheritance of Apert Syndrome is true?

    <p>It usually arises from random mutations, rarely inherited</p> Signup and view all the answers

    What percentage of children with Apert Syndrome raised in a healthy environment are expected to achieve a normal IQ?

    <p>40%</p> Signup and view all the answers

    Which of the following features is NOT typically associated with individuals who have Apert Syndrome?

    <p>Short stature</p> Signup and view all the answers

    Which characteristic is specifically associated with Treacher Collins Syndrome?

    <p>Micrognathia</p> Signup and view all the answers

    What is a common symptom of Treacher Collins Syndrome beyond craniofacial malformations?

    <p>Speech and language deficits</p> Signup and view all the answers

    Which diagnostic method is primarily used for detecting Treacher Collins Syndrome at birth?

    <p>Physical exams and craniofacial CT scans</p> Signup and view all the answers

    What treatment is crucial for managing the feeding difficulties associated with Treacher Collins Syndrome?

    <p>Early intervention</p> Signup and view all the answers

    Which of the following is NOT typically associated with Treacher Collins Syndrome?

    <p>Down syndrome</p> Signup and view all the answers

    Which symptom is most likely to occur in an individual with Treacher Collins Syndrome?

    <p>Downward slanting eyes</p> Signup and view all the answers

    What is a common treatment associated with Treacher Collins Syndrome for addressing feeding difficulties?

    <p>Use of a G-tube for feeding</p> Signup and view all the answers

    Which craniofacial anomaly is often associated with Treacher Collins Syndrome?

    <p>Pierre Robin Sequence</p> Signup and view all the answers

    What diagnostic method is crucial for identifying Treacher Collins Syndrome at birth?

    <p>Physical examination and craniofacial CT scans</p> Signup and view all the answers

    Which of the following is a primary issue related to speech and language in Treacher Collins Syndrome?

    <p>Conductive hearing loss affecting expressive language</p> Signup and view all the answers

    What structure separates the nares in the nasal cavity?

    <p>Columella</p> Signup and view all the answers

    Which part of the oral cavity helps to separate it from the nasal cavity?

    <p>Hard palate</p> Signup and view all the answers

    Which term described the vertical ridges that border the philtrum?

    <p>Philtral columns</p> Signup and view all the answers

    What structure is described as the pointy prominence on the top lip?

    <p>Tubercle</p> Signup and view all the answers

    Which of the following describes the paired crescent-shaped convexities that surround the nasal tip?

    <p>Alar rims</p> Signup and view all the answers

    What is the primary function of the tensor veli palatini muscle?

    <p>Opens the Eustachian tube to equalize pressure</p> Signup and view all the answers

    Which of the following regions extends from the base of the tongue to the esophagus?

    <p>Hypopharynx</p> Signup and view all the answers

    During the closure of the velopharyngeal port (VPC), which movement is considered the most common?

    <p>Antero-posterior movement of the velum</p> Signup and view all the answers

    What structure is located posterior to the Eustachian tube openings in the nasopharynx?

    <p>Torus tubarius</p> Signup and view all the answers

    What occurs to the velopharyngeal port during the production of nasal sounds?

    <p>It opens to allow air through the nose</p> Signup and view all the answers

    Study Notes

    Nose/Nasal Cavity Terminology

    • Nasal root: Starts at the level of the eyes.
    • Nasal bridge (nasion): Bony structure located between the eyes, connects to the nasofrontal suture.
    • Columella: Divides the nares (nostrils).
    • Ala nasi: Lower lateral surface shaped by alar cartilage.
    • Alar rims: Crescent-shaped features surrounding the nasal tip.
    • Alar base: Forms a pear-shaped opening of the nose.
    • Nasal sill: Base area of the nostril.
    • Piriform aperture: Opening of the nose.
    • Nasal septum: Composed of the vomer, perpendicular plate of the ethmoid bone, and quadrangular cartilage, separating nostrils.
    • Vomer: Positioned vertically; attaches to the skull superiorly and to the hard palate inferiorly.

    Oral Cavity Anatomy

    • Hard palate: Separates nasal and oral cavities, features an alveolar ridge that houses teeth.
    • Soft palate: Located posterior to the hard palate, extending to the uvula.
    • Uvula: Structures at the back of the throat.
    • Tongue: Dorsum (top surface) and ventral surface (bottom).
    • Faucial pillars: Formed by the palatoglossus muscle, bounding the sides of the oral cavity.
    • Palatine and lingual tonsils: Immune structures located between faucial pillars and at the tongue's base, respectively.

    Hard Palate Details

    • Palatal vault: The curved roof of the oral cavity.
    • Mucoperiosteum: Covers the hard palate with layers of epithelial tissue.
    • Rugae: Transverse ridges on the hard palate's mucosal covering.
    • Premaxilla: Triangular bone at the anterior part of the hard palate.
    • Incisive foramen: Channels for blood vessels into the palate.

    Velum and Pharynx Anatomy

    • Velum (soft palate): Transitions from hard to soft palate, with oral and nasal surfaces.
    • Pharynx: Connects nasal cavity to the esophagus, including:
      • Nasopharynx: Behind nasal cavity.
      • Oropharynx: Extends from the velum to the base of the tongue.
      • Hypopharynx: From the tongue's base to the esophagus.
      • Adenoids: Located on the posterior pharyngeal wall.

    Muscles Involved

    • Tensor veli palatini: Opens Eustachian tube for pressure equalization.
    • Levator veli palatini: Elevates soft palate, forming part of the velum's structure.
    • Palatopharyngeus: Elevates and widens the pharynx during swallowing, part of the faucial pillars.

    Velopharyngeal Port (VPC) Function

    • Closes during speech for most sounds, except nasal ones.
    • VPC closure patterns:
      • Antero-Posterior: Velum moves back to close.
      • Latero-Medial: Lateral walls converging behind the velum.
      • Circular: Velum and lateral walls move toward each other.

    Velopharyngeal Inadequacy (VPI)

    • Refers to inadequate closure of the VPC, leading to hypernasality.
    • Causes: Insufficient tissue (e.g., cleft palate), muscle dysfunction, or mechanical obstruction.
    • Dysfunction Types:
      • Insufficiency: Structural deficiency.
      • Incompetency: Functional deficiency.

    Resonance Disorders

    • Hypernasality: Excessive nasal resonance on oral sounds.
    • Hyponasality: Reduced nasal resonance; affects nasal consonants.
    • Nasal Cul-De-Sac Resonance: Sound is trapped in the nasal cavity.

    Management of Cleft Lip and Palate

    • Initial Concerns: Airway management and feeding difficulties.
    • Feeding Problems: Often involve the ability to suck, leading to nasal regurgitation.
    • Surgical Interventions: Generally performed to repair cleft lip by 3 months; multiple surgeries may be needed for palate repair.

    Genetic Concepts in Cleft Anomalies

    • Basic Genetics: DNA, genes, and chromosomes.
    • Congenital Anomalies: Arise from genetic or environmental factors.
    • Chromosomal Abnormalities: Can lead to conditions like Down syndrome (trisomy 21).

    Etiologies and Incidence of Clefts

    • Occur in approximately 1 in 750 live births; higher in males.
    • Classified as syndromic or nonsyndromic, with varied genetic causes.

    Feeding Challenges and Modifications

    • Modification strategies to aid those with clefts, including specialized bottles and feeding positions.
    • Monitoring for ear infections due to Eustachian tube dysfunction is crucial.

    Summary of VPI and Resonance Management

    • Speech therapy, surgery, and prosthetics are key in addressing VPI and associated speech issues.
    • Use of nasometers for real-time feedback in measuring nasality during speech production.### Penetrance and Expressivity
    • Penetrance: Percentage of individuals with an abnormal gene exhibiting the related trait.
    • Reduced Penetrance: Gene is present but trait expression is absent.
    • Expressivity: Variation in the extent of trait manifestation among individuals.
    • Example: Van der Woude syndrome features like submucous cleft and lip pits demonstrate expressivity differences.

    Down Syndrome

    • Affects about 1 in 700 births; most common genetic cause of intellectual disability.
    • Features trisomy 21, resulting in three copies of chromosome 21 instead of the usual two.
    • Facial Characteristics: Low muscle tone, smaller head, upward eye slant, broad hands, short digits, single palmar crease, wide toe gap.
    • Medical Issues include:
      • Cardiac: 40-50% with congenital heart defects, especially atrioventricular septal defects.
      • Thyroid: Hypothyroidism leading to developmental delays and weight issues.
      • Gastrointestinal: Anorectal malformations, duodenal atresia, and feeding difficulties.
      • Hearing Impairment: 60-85% experience conductive hearing loss.
      • Visual Problems: Over 50% may need glasses due to refractive errors, cataracts, or glaucoma.
      • Speech: Reduced intelligibility and difficulties in expressive language due to hearing impairments.
    • SLP Role: Evaluate and treat speech, language, feeding, and swallowing; collaborate with multidisciplinary teams for comprehensive support.

    Turner Syndrome

    • Chromosomal condition impacting females due to loss of genetic material from a sex chromosome.
    • Affects 1 in 2500 to 1 in 5000 live births; most cases lead to pregnancy loss.
    • Main feature: Short stature evident by age five.
    • Clinical Features: Webbed neck, low hairline, lymphedema, heart defects, and early ovarian function loss.
    • Cognitive Impact: No intellectual disability generally, but difficulties with spatial relationships and motor control.
    • Diagnosis typically via physical examination and karyotype testing; not usually hereditary.
    • Management emphasizes monitoring health concerns, heart conditions, growth hormone, and estrogen replacement therapy.

    Pierre Robin Sequence

    • A set of abnormalities including micrognathia (small mandible), glossoptosis (tongue obstruction), and cleft palate.
    • Often leads to airway obstruction impacting feeding and breathing.
    • Syndromic vs. Isolated: Syndromic linked to conditions like Stickler syndrome; isolated occurrence affects 1 in 8,500 to 14,000 people.
    • Diagnosed at birth or via high-resolution ultrasound in utero.
    • Management includes airway support, surgical interventions for jaw lengthening, and speech therapy.

    Crouzon Syndrome

    • Rare genetic disorder characterized by craniosynostosis, leading to premature skull suture fusion.
    • Distinctive facial features include midface deficiency, proptosis, and potential airway obstruction.
    • Symptoms: Abnormal facial shape, hearing loss, respiratory issues, and possible intellectual disability.
    • Diagnosis through clinical signs, imaging, and genetic testing.
    • Treatment focused on relieving intracranial pressure and managing facial deformities.

    Apert Syndrome

    • Genetic condition resulting in skull, face, and extremity malformations due to craniosynostosis and syndactyly.
    • Occurs in approximately 1 out of 65,000 births; intellectual disability is common.
    • Symptoms include facial growth abnormalities, obstructive sleep apnea, and recurrent ear infections.
    • Diagnosis made at birth or prenatally via ultrasound/MRI.
    • Treatment includes surgeries for deformities and supportive therapies for sleep apnea.

    Treacher Collins Syndrome (TCS)

    • Genetic disorder impacting craniofacial development, often associated with Pierre Robin Sequence.
    • Characterized by downward slanting eyes, underdeveloped ears, and potential hearing loss.
    • Symptoms encompass respiratory issues, feeding difficulties, and psychosocial concerns.
    • Diagnosis involves radiographic exams and physical assessment; treatment includes reconstructive surgeries and speech therapy.
    • SLP-focused issues include vocal intensity deviations, hearing loss affecting language, and swallowing difficulties.

    Embryologic Development of the Face and Palate

    • Normal facial and oral development arises from the fusion of five embryonic structures:
      • Two mandibular processes
      • One frontonasal process
      • Two maxillary processes

    Facial Development

    • Occurs between the 5th and 8th weeks of gestation.
    • Achieved through the fusion of:
      • Two mandibular processes
      • One frontonasal process
      • Two maxillary processes
    • Cleft lip results from disrupted fusion between the frontonasal mass and maxillary processes.

    Development of the Secondary Palate

    • Comprises both the bony hard palate and the soft palate.
    • Fusion of the hard and soft palates takes place between the 8th and 12th weeks of gestation.
    • Issues during fusion can lead to isolated clefts in the hard and/or soft palate.

    Cleft Lip

    • Involves the upper lip; can extend toward the nostril.
    • Classified into unilateral (one side) and bilateral (both sides).
    • Bilateral clefts often include the palate.
    • Affects the nose's shape leading to asymmetry.
    • Cleft lip alone is rare, constituting only 5% of cleft cases.
    • Incomplete cleft lip: Absence of fusion in lip structures; soft tissue affected.
    • Complete cleft lip: Involves bony structures underneath the lip (anterior alveolar ridge).
    • More prevalent in males compared to females.

    Cleft Palate

    • Results from failure of fusion of hard and/or soft palate.
    • More common in females.
    • Frequently associated with feeding difficulties and speech problems.

    Cleft Lip and Palate

    • Unilateral cleft lip and palate: Extends from upper lip, through alveolar ridge, involving hard and soft palates.
    • Bilateral cleft lip and palate: Most severe form; significant tissue deficiency affects lip and alveolar ridge, leading to abnormal positioning of central lip, alveolus, and premaxilla.
    • In bilateral cases, the nose tip may attach directly to the lip.

    Submucous Cleft

    • Occurs beneath the membrane of the palate; often hidden.
    • Common indicators include bifid uvula and hypernasality.
    • Possible symptoms include chronic otitis media, nasal air emission, and nasal regurgitation (due to Eustachian tube dysfunction).

    Bifid Uvula

    • Refers to a split uvula, indicating a submucous cleft's presence.

    Tessier Cleft

    • Considered the most severe type; may extend from the lip through the palate to the eye orbit.

    Classification of Clefts

    • Syndromic Clefts: Linked to over 300 syndromes; can be influenced by teratogen exposure and environmental factors.
    • Non-Syndromic Clefts: The majority of clefts, resulting from multifactorial etiologies and disturbances in palatal development.

    Causes of Clefts

    • Endogenous Causes: Genetic predisposition, including defective genes or chromosomal disorders.
    • Exogenous Causes: External factors affecting the development of the cleft.

    Etiologies of Clefts

    • Over 400 genetic syndromes can lead to clefts; non-syndromic clefts are most prevalent and may cluster in families.
    • Rare chromosomal abnormalities, such as Trisomy 13, are associated with cleft lip with or without cleft palate.
    • Environmental factors like drugs, alcohol, nicotine, x-rays, and viruses can cause teratogen-induced disorders resulting in clefts.
    • Mechanically induced clefts may occur due to situations like amniotic rupture, intrauterine crowding, or uterine anomalies.

    Incidence and Demographics of Clefts

    • Clefts affect approximately 1 in every 750 live births worldwide.
    • Cleft lip with or without an associated cleft palate is more frequent than isolated cleft palate cases.
    • Males and specific ethnic groups, including Asians and Native Americans, have a higher incidence of clefts.

    Management of Cleft Lip and Palate

    • Initial management focuses on airway safety, feeding challenges, and the risk of ear-related diseases.
    • Infants with cleft palate face difficulties in sucking, leading to nasal regurgitation; this can hinder weight gain.
    • Utilization of specialized bottles and adaptive feeding positions is recommended to address feeding challenges.
    • Children with cleft palates are at a high risk for otitis media and conductive hearing loss; regular monitoring and interventions are essential.
    • Surgical intervention typically occurs by 3 months for cleft lip and may involve multiple surgeries for complete clefts.

    Speech and Language in Children with Clefts

    • Children with clefts frequently present with poorer receptive and expressive language skills, shorter mean length of utterance (MLU), and a smaller vocabulary.
    • Structural complexity in speech is reduced, leading to voice issues like vocal nodules and hyperfunction.
    • Articulation can vary widely; velopharyngeal incompetence (VPI) affects sound production.
    • The manner of articulation is primarily impacted due to the interaction of articulators during speech.
    • Compensatory articulation errors arise as a strategy to adapt to physical limitations in producing sounds accurately.

    Feeding Difficulties Overview

    • Proper nutrition and feeding are critical for infants with clefts.
    • Cleft palate creates an open connection between oral and nasal cavities, limiting the ability to suck.
    • Cleft lip generally causes fewer feeding challenges when not associated with a cleft palate.
    • Feeding issues can lead to poor oral suction, insufficient milk intake, and nasal regurgitation.
    • Consequences of feeding difficulties include poor weight gain and decreased nutrition.

    Specific Feeding Challenges

    Complete Cleft Lip

    • Forming a seal and maintaining oral pressure for sucking is significantly challenging.
    • Nasal regurgitation commonly occurs during feeding.
    • Adaptive strategies like optimal positioning and specialized bottles/nipples may be required.
    • Holding infants upright and using longer nipples can assist with successful feeding.

    Cleft Palate

    • Similar feeding challenges as complete cleft lip but typically more severe due to open cavities.
    • Maintaining negative pressure in the mouth is particularly difficult.
    • Tongue positioning issues may arise from posterior clefts impacting sound production.
    • Infants may expend more calories during feeding than they consume, potentially leading to failure to thrive.

    Feeding Modifications

    • Optimal feeding position is upright to enhance suction and decrease regurgitation.
    • Use longer, soft nipples, cross-cut nipples, and squeezable bottles to facilitate feeding.
    • Encouraging some sucking is important to develop oral musculature prior to surgery.

    Bottle-Feeding Options

    • Mead-Johnson Cleft Lip/Palate Nurser: Soft, squeezable, with a cross-cut nipple, suitable for weak sucking.
    • Ross Cleft Palate Nurser: Long, thin nipple allows direct milk delivery; may induce gag reflex.
    • Pigeon Bottle: Features a Y-cut nipple with an air valve to maintain flow without collapse.
    • Lamb’s Nipple: Long and soft, poses a choking hazard for some infants.
    • Haberman Feeder: Adjustable milk flow based on compression, limits excess air intake.
    • Preemie Nipple: Smaller, softer design promotes slower milk flow.
    • Ascepto Feeder: Syringe-based; not recommended due to rapid flow and lack of mimicked sucking.
    • Standard Amber Nipple: Combined with a squeeze bottle, suited for moderate sucking abilities.
    • Nuk Cleft Palate Teat: Wide-based, fast-flowing nipple adaptable for various bottles.

    Special Considerations

    • Maintain an upright feeding position at all times.
    • Frequent burping is essential, approximately every 5 minutes, to prevent discomfort.
    • Keep the infant upright for 20-30 minutes after feeding to reduce regurgitation risks.
    • Cleaning the baby’s mouth and nose after meals is important for hygiene.
    • Monitor infants for signs of stress during feeding, including coughing and changes in breathing.
    • Consider involving a feeding specialist or lactation consultant for additional support.

    Hearing Concerns

    • High risk of otitis media and conductive hearing loss is associated with eustachian tube dysfunction in infants with cleft palate.

    Overview of Down Syndrome

    • Affects approximately 1 in 700 births, making it the most common genetic cause of intellectual disability.
    • Present at birth, affecting individuals across all ages, social and educational levels, and ethnic backgrounds.
    • No known cause, no cure available, and prevention is not possible.
    • Caused by Trisomy 21, involving three copies of chromosome 21 instead of the usual two.

    Chromosomal and Facial Characteristics

    • Normally, humans have 46 chromosomes (23 pairs), with Down Syndrome featuring three instances of chromosome 21.
    • Key facial traits include low muscle tone, smaller head (brachycephaly), upward slant of the eyes, broad hands, short fingers, a single palmar crease, and a wide gap between toes.

    Significant Medical Concerns

    • Cardiac Issues: 40-50% of individuals have congenital heart disease, commonly presenting as atrioventricular septal defects (AVSD).
    • Thyroid Disorders: Hypothyroidism is prevalent, leading to symptoms like lethargy, developmental delays, and growth challenges.
    • Gastrointestinal Problems: Includes anorectal malformations, duodenal atresia, Hirschsprung Disease, feeding challenges, constipation, and gastroesophageal reflux.
    • Orthopedic Issues: Result from both low muscle tone and ligament laxity.
    • Hearing Impairments: 60-85% experience conductive hearing loss; sensorineural loss can develop in adulthood.
    • Visual Problems: More than 50% require glasses, with common issues such as refractive errors, cataracts, and glaucoma.

    Speech and Language Considerations

    • Common speech and language challenges include reduced expressive language abilities and difficulties with grammar and phonology.
    • Decreased intelligibility is often linked to hearing impairments, leading to persistent phonological processes.

    Role of the Speech-Language Pathologist (SLP)

    • Evaluate and treat speech, language, feeding, and swallowing issues.
    • Conduct hearing screenings and refer for comprehensive audiological evaluations when needed.
    • Engage in early intervention strategies and collaborate with families, teachers, and multidisciplinary teams.
    • Make referrals to specialists as appropriate.

    SLP Treatment Targets

    • Enhance respiration techniques for effective speech production.
    • Address feeding and swallowing deficits through tailored interventions.
    • Implement voice therapy to improve phonation strength.
    • Focus on articulation through targeted interventions.
    • Provide language therapy to boost overall communication and participation in activities of daily living (ADLs).
    • Introduce Augmentative and Alternative Communication (AAC) methods if necessary.

    Overview of Turner Syndrome

    • A chromosomal condition primarily affecting females due to loss of genetic material from a sex chromosome.
    • Prevalence is approximately 1 in 2,500 to 1 in 5,000 live births; most cases result in pregnancy loss.
    • Most common physical manifestation is short stature, noticeable by age 5.
    • Girls and women typically display normal intelligence but may experience developmental delays and behavioral issues.

    Clinical Features

    • Physical Traits:

      • Webbed neck presents in about 30% of cases.
      • Characterized by a low hairline at the back of the neck.
      • Lymphedema results in swelling of hands and feet.
      • Possible skeletal abnormalities and kidney issues present.
      • Heart defects affect 33% to 50% of individuals, including narrowing of arteries and valve abnormalities.
      • Early loss of ovarian function often leads to incomplete puberty and infertility.

    • Cognitive Deficits:

      • No intellectual disability is typically observed.
      • Common learning difficulties include nonverbal learning disorders and challenges in spatial perception.
      • Skills in motor control and mathematics may also be impaired.
      • Many individuals can lead fulfilling, productive lives as adults.

    Diagnosis

    • Diagnostic Methods:

      • Diagnosis can occur during infancy or early childhood.
      • Physical exams serve as initial indicators for the condition.
      • Karyotype testing is necessary to confirm chromosomal anomalies.

    • Hereditary Factors:

      • Generally considered a genetic disorder, but it is not typically hereditary.
      • No known environmental causes contribute to Turner Syndrome.
      • Most women with Turner Syndrome are infertile.

    Treatment and Management

    • Treatment is focused on managing symptoms rather than curing the condition, with emphasis on individual health concerns.
    • Regular follow-up with a cardiologist is essential for monitoring heart conditions.
    • Common therapies include growth hormone therapy and estrogen replacement therapy.
    • Some cases may require cardiac surgery to address heart defects.
    • Psychological support, physical therapy, occupational therapy, and speech-language therapy may be recommended.

    Overview of Pierre Robin Sequence

    • Characterized by abnormalities in the head and face, primarily affecting three areas: micrognathia, glossoptosis, and cleft palate.
    • Micrognathia refers to an underdeveloped or small mandible, which can impede normal feeding and swallowing.
    • Glossoptosis describes the abnormal positioning of the tongue towards the back of the throat, risking airway obstruction.
    • Cleft palate arises from improper fusion of frontonasal and maxillary processes during fetal development.
    • Termed a "sequence" as the underdeveloped jaw initiates the subsequent features and complications.

    Clinical Features

    • Micrognathia can lead to significant difficulties in feeding and swallowing.
    • Glossoptosis poses a risk to airway stability, especially during sleep, potentially leading to respiratory distress.
    • Individuals may experience problems with breathing, feeding, and may suffer from failure to thrive.

    Syndromic vs. Isolated Pierre Robin Sequence

    • Syndromic cases occur as part of broader syndromes, such as Stickler syndrome or campomelic dysplasia.
    • Isolated Pierre Robin Sequence presents independently, with an incidence of 1 in 8,500 to 14,000 births.

    Genetic Causes

    • Most frequent genetic alteration involves changes near the SOX9 gene located on chromosome 17.
    • Generally, Pierre Robin Sequence is not inherited; it often occurs due to spontaneous (de novo) genetic mutations.

    Diagnosis and Management

    • Diagnosed shortly after birth based on observable features: micrognathia, glossoptosis, and airway obstruction.
    • Presence of cleft palate is common but not a prerequisite for diagnosis.
    • Prenatal detection is feasible during the second trimester using high-resolution ultrasonography.

    Management Strategies

    • Airway Management: May require tracheostomy if there’s significant airway obstruction at birth.
    • Nonsurgical Management: Including prone positioning and nasopharyngeal airway insertion to improve breathing.
    • Surgical Management: Mandibular distraction osteogenesis can be performed to elongate the jaw and alleviate airway obstruction.
    • Additional interventions may involve surgeries to address clefting and speech therapy tailored for associated complications.

    The Role of the Speech-Language Pathologist (SLP)

    • SLPs engage in evaluating and treating issues related to feeding difficulties, dysphagia, and complications arising from cleft palate.
    • They address resonance disorders and articulation deficits seen in affected individuals.
    • SLPs also play a critical role in managing challenges tied to failure to thrive in these patients.

    Overview of Pierre Robin Sequence

    • Characterized by abnormalities in the head and face, primarily affecting three areas: micrognathia, glossoptosis, and cleft palate.
    • Micrognathia refers to an underdeveloped or small mandible, which can impede normal feeding and swallowing.
    • Glossoptosis describes the abnormal positioning of the tongue towards the back of the throat, risking airway obstruction.
    • Cleft palate arises from improper fusion of frontonasal and maxillary processes during fetal development.
    • Termed a "sequence" as the underdeveloped jaw initiates the subsequent features and complications.

    Clinical Features

    • Micrognathia can lead to significant difficulties in feeding and swallowing.
    • Glossoptosis poses a risk to airway stability, especially during sleep, potentially leading to respiratory distress.
    • Individuals may experience problems with breathing, feeding, and may suffer from failure to thrive.

    Syndromic vs. Isolated Pierre Robin Sequence

    • Syndromic cases occur as part of broader syndromes, such as Stickler syndrome or campomelic dysplasia.
    • Isolated Pierre Robin Sequence presents independently, with an incidence of 1 in 8,500 to 14,000 births.

    Genetic Causes

    • Most frequent genetic alteration involves changes near the SOX9 gene located on chromosome 17.
    • Generally, Pierre Robin Sequence is not inherited; it often occurs due to spontaneous (de novo) genetic mutations.

    Diagnosis and Management

    • Diagnosed shortly after birth based on observable features: micrognathia, glossoptosis, and airway obstruction.
    • Presence of cleft palate is common but not a prerequisite for diagnosis.
    • Prenatal detection is feasible during the second trimester using high-resolution ultrasonography.

    Management Strategies

    • Airway Management: May require tracheostomy if there’s significant airway obstruction at birth.
    • Nonsurgical Management: Including prone positioning and nasopharyngeal airway insertion to improve breathing.
    • Surgical Management: Mandibular distraction osteogenesis can be performed to elongate the jaw and alleviate airway obstruction.
    • Additional interventions may involve surgeries to address clefting and speech therapy tailored for associated complications.

    The Role of the Speech-Language Pathologist (SLP)

    • SLPs engage in evaluating and treating issues related to feeding difficulties, dysphagia, and complications arising from cleft palate.
    • They address resonance disorders and articulation deficits seen in affected individuals.
    • SLPs also play a critical role in managing challenges tied to failure to thrive in these patients.

    Overview of Apert Syndrome

    • Rare genetic condition evident at birth, characterized by malformations of the skull, face, hands, and feet.
    • Key features include craniosynostosis (premature fusion of skull bones) and syndactyly (fusion of fingers or toes).
    • Common association with intellectual disability.

    Causes

    • Primarily results from random genetic mutations; occasional cases inherited in an autosomal dominant manner.
    • Estimated occurrence is 1 in 65,000 live births.

    Symptoms

    • Distinctive skull and facial abnormalities, including wide-set bulging eyes and a sunken midface.
    • Associated health issues include obstructive sleep apnea, frequent ear infections, and hearing loss.
    • Additional challenges include crowded teeth and developmental delays.

    Diagnosis

    • Typically diagnosed at birth through observation of physical anomalies and skeletal irregularities.
    • Prenatal diagnosis possible via ultrasound or MRI imaging.

    Treatment

    • Surgical intervention is critical, including early craniosynostosis release and midface advancement to address skull and facial deformities.
    • Management of obstructive sleep apnea may involve CPAP therapy or tracheostomy.
    • PE tubes may be utilized to prevent or treat ear infections.

    Prognosis

    • Prognosis varies significantly; about 40% of children with Apert syndrome, when supported in a healthy environment, can achieve a normal IQ.

    Overview

    • Treacher Collins Syndrome (TCS) is a genetic disorder affecting craniofacial development.
    • Inheritance pattern is autosomal dominant.
    • Frequently associated with Pierre Robin Sequence, which includes features such as downward slanting eyes, small or malformed ears, and possible hearing loss.

    Characteristics

    • Key features include micrognathia (small lower jaw) and underdeveloped facial bones.
    • Other anomalies: coloboma (notches in lower eyelids), cleft palate, and severe middle ear malformations.
    • Individuals generally have normal intelligence but may experience vision and hearing challenges along with dental malocclusions.

    Symptoms

    • Commonly presents with respiratory and feeding difficulties.
    • Hearing loss and speech/language deficits are prevalent.
    • Potential complications include obstructive sleep apnea and psychosocial issues.

    Diagnosis

    • Diagnosis is typically made at birth using radiographic examinations and craniofacial CT scans.
    • Physical exams are crucial for identifying external features.
    • TCS may mimic other syndromes or be associated with Pierre Robin Sequence.

    Treatment

    • Early intervention is critical to address speech, language, hearing, and feeding challenges.
    • Treatment may involve reconstructive surgeries to correct facial and dental anomalies as well as cleft repair.
    • Auditory rehabilitation is essential, along with potential use of tracheostomy, G-tube feeding, and bone-anchored hearing aids.
    • Individuals may experience deviations in vocal intensity and pitch.
    • Conductive hearing loss can negatively impact expressive language skills.
    • Articulation and swallowing difficulties may arise, along with resonance deficits.

    Overview

    • Treacher Collins Syndrome (TCS) is a genetic disorder affecting craniofacial development.
    • Inheritance pattern is autosomal dominant.
    • Frequently associated with Pierre Robin Sequence, which includes features such as downward slanting eyes, small or malformed ears, and possible hearing loss.

    Characteristics

    • Key features include micrognathia (small lower jaw) and underdeveloped facial bones.
    • Other anomalies: coloboma (notches in lower eyelids), cleft palate, and severe middle ear malformations.
    • Individuals generally have normal intelligence but may experience vision and hearing challenges along with dental malocclusions.

    Symptoms

    • Commonly presents with respiratory and feeding difficulties.
    • Hearing loss and speech/language deficits are prevalent.
    • Potential complications include obstructive sleep apnea and psychosocial issues.

    Diagnosis

    • Diagnosis is typically made at birth using radiographic examinations and craniofacial CT scans.
    • Physical exams are crucial for identifying external features.
    • TCS may mimic other syndromes or be associated with Pierre Robin Sequence.

    Treatment

    • Early intervention is critical to address speech, language, hearing, and feeding challenges.
    • Treatment may involve reconstructive surgeries to correct facial and dental anomalies as well as cleft repair.
    • Auditory rehabilitation is essential, along with potential use of tracheostomy, G-tube feeding, and bone-anchored hearing aids.
    • Individuals may experience deviations in vocal intensity and pitch.
    • Conductive hearing loss can negatively impact expressive language skills.
    • Articulation and swallowing difficulties may arise, along with resonance deficits.

    Nose and Nasal Cavity Anatomy

    • Nasal Root: Starts at the eyes, marking the beginning of the nose.
    • Nasal Bridge (Nasion): Bony area between the eyes attached to the nasofrontal suture.
    • Columella: Structure that separates the nostrils (nares).
    • Ala Nasi: Lower lateral area of the external nose shaped by alar cartilage.
    • Alar Rims: Crescent-shaped structures surrounding the nasal tip.
    • Alar Base: Pear-shaped opening forming the nostril.
    • Nasal Sill: Base of the nostril.
    • Piriform Aperture: The primary opening to the nasal cavity.
    • Nasal Septum: Composed of vomer, perpendicular plate of ethmoid, and quadrangular cartilage; divides nostrils and leads to columella.
    • Vomer: Perpendicularly positioned between the hard palate and the nasal cavity.

    Upper Lip Features

    • Philtrum: Furrow between the columella and top lip.
    • Philtral Columns: Vertical ridges alongside the philtrum.
    • Prolabium: Tissue located between the philtral columns.
    • Cupid’s Bow: The distinctive shape of the upper lip.
    • White Roll: Outline of the lips.
    • Vermillion: Red area of both upper and lower lips.
    • Tubercle: Prominent point on the upper lip.

    Oral Cavity Anatomy

    • Hard Palate: Separates the nasal cavity from the oral cavity.
    • Soft Palate: Extends from the end of the hard palate to the uvula.
    • Uvula: Tissue located at the end of the soft palate.
    • Tongue: Dorsal (top) surface includes the ventral (bottom) surface.
    • Faucial Pillars: Formed by palatoglossus muscles.
    • Palatine Tonsils: Located between the faucial pillars.
    • Lingual Tonsils: Found at the base of the tongue, further back in the oral cavity.
    • Oropharyngeal Isthmus: Opening from the oral cavity to the pharynx, bordered by the velum, faucial pillars, and base of the tongue.

    Hard Palate Structure

    • Palatal Vault: Rounded dome shape, varying in a V, U, or flat form.
    • Alveolar Ridge: Surrounds the vault and supports the teeth.
    • Mucoperiosteum: Mucous membrane covering the bony hard palate.
    • Rugae: Transverse ridges in the mucosa of the hard palate.
    • Premaxilla: Anterior triangular portion of the hard palate.
    • Incisive Foramen: Openings for blood vessels into the oral cavity.
    • Incisive Suture Lines: Lines of fusion in the hard palate.
    • Maxilla: Central structure in the hard palate.
    • Palatine Processes: Form part of the hard palate structure.

    Soft Palate and Pharynx

    • Velum (Soft Palate): Attached to the hard palate, has distinct oral and nasal surfaces.
    • Pharynx: Connects nasal cavity to esophagus.
    • Nasopharynx: Area posterior to the nasal cavity.
    • Oropharynx: Extends from the velum to the base of the tongue.
    • Hypopharynx: Stretches from base of the tongue to esophagus.
    • Laryngopharynx: Further extends from the base of the tongue to the epiglottis.
    • Adenoids: Located on the posterior pharyngeal wall in the nasopharynx.
    • Eustachian Tube: Connects middle ear to pharynx, aiding in pressure equalization.

    Muscles of the Soft Palate

    • Tensor Veli Palatini: Opens the Eustachian tube for pressure equalization.
    • Levator Veli Palatini: Elevates the soft palate; extends into the soft palate musculature.
    • Palatopharyngeus: Forms back pillars and elevates/pharynx during swallowing.
    • Palatoglossus: Brings the tongue base and soft palate together.
    • Muscles of the Uvula: Function in retracting the uvula.

    Velopharyngeal Port (VPC) Function

    • Speech Requirement: VPC must be closed for most speech sounds, except for nasal sounds.
    • Structures Involved:
      • Velum: lifts to close nasal passage during speech.
      • Lateral Pharyngeal Walls (LPW): move inward to assist VPC closure.
      • Posterior Pharyngeal Wall (PPW): may bulge during closure in some individuals.
    • VPC States:
      • Inactive (Open) for quiet nasal breathing.
      • Open during nasal sound production.
      • Closed when swallowing, sucking, or in oral speech.

    VPC Closure Patterns

    • Antero-Posterior: Velum moves up/back to meet PPW (most frequent).
    • Latero-Medial: LPWs approach and meet behind the velum (least frequent).
    • Circular: Both velum and LPWs move towards each other.
    • Circular + Anterior: Similar to circular, includes anterior bulging of the PPW.

    VPC and Oral Pressure

    • Bidirectional Relationship: Adequate oral pressure is necessary for effective VPC closure.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Description

    Test your knowledge on the anatomy of the nasal cavity and velum. This quiz focuses on the area located posterior to the nasal cavity and above the velum. Perfect for students studying human anatomy or related fields.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser