Treacher Collins and Down Syndromes Overview
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Questions and Answers

What is the primary focus of the research paper by Santos et al. (2009)?

  • The craniofacial morphology in individuals with Down syndrome.
  • The prevalence of intellectual disabilities among individuals with cerebral palsy. (correct)
  • The co-occurrence of Treacher Collins syndrome and Down syndrome.
  • The impact of dental treatment on the quality of life of children with disabilities.
  • Which of the following publications is a case study that examines the co-occurrence of Treacher Collins syndrome and Down syndrome?

  • Sonoda et al. (2002)
  • Thoukididou et al. (2016) (correct)
  • Ferrazzano et al. (2016)
  • Martelli-Junior et al. (2009)
  • Which research paper investigates the impact of dental treatment under general anesthesia on the quality of life of children with disabilities?

  • Renju et al. (2014)
  • Sonoda et al. (2002)
  • Ferrazzano et al. (2016) (correct)
  • Vicente et al. (2020)
  • What type of study is the research conducted by Vicente et al. (2020) on craniofacial morphology in individuals with Down syndrome?

    <p>Systematic review and meta-analysis (B)</p> Signup and view all the answers

    Which of the following publications provides a detailed description of the orofacial features associated with Treacher Collins syndrome?

    <p>Martelli-Junior et al. (2009) (D)</p> Signup and view all the answers

    Which research paper focuses specifically on different aspects of general anesthesia in pediatric dentistry?

    <p>Ramazani (2016) (C)</p> Signup and view all the answers

    Which of the following publications is a case report that examines the dental and health aspects in individuals with both Treacher Collins and Down syndrome?

    <p>Campos et al. (2022) (B)</p> Signup and view all the answers

    Which of the following research papers provides a review of the literature on mandibulofacial dysostosis (Treacher Collins syndrome)?

    <p>Renju et al. (2014) (A)</p> Signup and view all the answers

    Which of the following is NOT a common challenge associated with treating patients with comorbidities, according to the content provided?

    <p>Inability to receive dental treatment due to financial constraints. (A)</p> Signup and view all the answers

    What is a key advantage of performing comprehensive dental treatment under general anesthesia (GA) in a single session, as mentioned in the text?

    <p>Improved efficiency and safety, especially for longer procedures. (A)</p> Signup and view all the answers

    What is the significance of the reference to 'well-trained professionals, careful monitoring, and advanced equipment' in the context of the content?

    <p>To underscore the importance of minimizing potential risks associated with dental procedures performed under GA. (C)</p> Signup and view all the answers

    Which of the following is a contributing factor to the difficulty of using behavior management techniques in patients with Down syndrome, as described in the content?

    <p>Difficulties with communication and understanding instructions. (D)</p> Signup and view all the answers

    What is the primary purpose of providing pre- and postoperative instructions to the parents or caregivers of patients undergoing dental procedures under GA?

    <p>To minimize the risk of developing postoperative complications, such as infection. (D)</p> Signup and view all the answers

    Which of the following is NOT mentioned as a factor that needs to be considered before undertaking comprehensive dental treatment under GA?

    <p>The cost of the procedures and the family's financial ability to pay. (A)</p> Signup and view all the answers

    Why is the use of behavior management techniques impractical in patients with Down syndrome who are unable to follow instructions?

    <p>Their limited cognitive abilities make it challenging for them to understand and follow instructions required for these techniques. (D)</p> Signup and view all the answers

    What is the primary reason for performing dental procedures for patients with Down syndrome under GA?

    <p>To ensure consistent cooperation and compliance with instructions. (A)</p> Signup and view all the answers

    What percentage of Down syndrome cases have the chromosomal composition of 47,XY,+21 or 47,XX,+21?

    <p>95% (B)</p> Signup and view all the answers

    What is a possible cause of Down syndrome, besides the standard 47,XY,+21 or 47,XX,+21 karyotype?

    <p>Translocation of chromosome 21 (B)</p> Signup and view all the answers

    What is the most common translocation associated with Down syndrome?

    <p>Between chromosomes 14 and 21 (D)</p> Signup and view all the answers

    What dental condition is ten times more prevalent in individuals with Down syndrome compared to the general population?

    <p>Dental malformations (C)</p> Signup and view all the answers

    Which of the following is NOT a common oral disorder found in individuals with Down syndrome?

    <p>Speech impediments (C)</p> Signup and view all the answers

    What specific physiological difficulty often affects individuals with Down syndrome, impacting their ability to consume sufficient calories?

    <p>Difficulty in swallowing (D)</p> Signup and view all the answers

    What is the main reason why individuals with Down syndrome are advised to seek regular and early dental care?

    <p>To improve their quality of life (B)</p> Signup and view all the answers

    What is the name of the condition that the patient, F.P.M., is diagnosed with, in addition to Down syndrome?

    <p>Treacher Collins syndrome (C)</p> Signup and view all the answers

    What is the most likely diagnosis for the patient described in the text?

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

    Which of the following conditions is NOT mentioned as being present in the patient described in the text?

    <p>Dental caries (D)</p> Signup and view all the answers

    Which of the following is a characteristic of Treacher Collins Syndrome, as described in the text?

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

    What is the significance of the statement "The patient presented a completely inaccessible behavior, due to mental deficiency"?

    <p>It highlights the importance of considering the patient's mental state before administering anesthesia. (A)</p> Signup and view all the answers

    Based on the information provided, what can you infer about the patient's family history?

    <p>There is a strong likelihood that Treacher Collins Syndrome is a hereditary condition. (D)</p> Signup and view all the answers

    Which of the following aspects of the patient's condition is directly related to the decision to treat them under general anesthesia?

    <p>The patient's mental deficiency. (B)</p> Signup and view all the answers

    What is the purpose of mentioning "serum iron levels" in the context of the text?

    <p>To highlight the patient's history of iron deficiency anemia (D)</p> Signup and view all the answers

    Why is the statement "the patient already had a normal erythrogram, normal albumin, but the serum iron levels remained low" significant?

    <p>It indicates that the patient's condition is improving, but some issues remain. (A)</p> Signup and view all the answers

    What is the primary reason why patients with special needs often require general anesthesia for dental care?

    <p>Patients with special needs may have difficulty cooperating with dental procedures in a traditional setting. (C)</p> Signup and view all the answers

    Which of the following is NOT a specific consideration for dental treatment of individuals with Down syndrome?

    <p>Higher likelihood of developing allergies to dental materials. (B)</p> Signup and view all the answers

    Based on the provided text, what specific dental care approach is recommended for children with Down syndrome?

    <p>A collaborative approach involving pediatric and periodontal dentists. (A)</p> Signup and view all the answers

    What two factors are considered crucial for achieving successful treatment of patients with special needs?

    <p>Early intervention and preventative measures. (A), Effective communication and a multidisciplinary approach. (D)</p> Signup and view all the answers

    What conclusion can be drawn from the text regarding the impact of oral health on overall health?

    <p>Oral health is a critical factor in contributing to one's overall well-being. (D)</p> Signup and view all the answers

    Which of the following statements summarizes the key message of the text?

    <p>Patients with Down syndrome require special attention in dental care due to various health issues. (A)</p> Signup and view all the answers

    According to the provided text, what is the primary purpose of the multidisciplinary approach in dental treatment of patients with special needs?

    <p>To provide a comprehensive and coordinated care plan addressing various aspects of the patient's needs. (C)</p> Signup and view all the answers

    What is the main implication of the study by Silva et al. (2020) regarding dental caries in children and adolescents with Down Syndrome?

    <p>Children and adolescents with Down syndrome experience higher rates of dental caries compared to their peers without the condition. (A)</p> Signup and view all the answers

    What is the estimated prevalence of Treacher Collins Syndrome (TCS)?

    <p>1 in 10,000 to 1 in 50,000 people (A)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of Treacher Collins Syndrome (TCS)?

    <p>Trisomy for chromosome 21 (A)</p> Signup and view all the answers

    What is the primary cause of malocclusion in individuals with Treacher Collins Syndrome?

    <p>Deficiencies in the bone bases (B)</p> Signup and view all the answers

    Which of the following statements about dental formation in Treacher Collins Syndrome is TRUE?

    <p>Lower teeth are generally more affected than upper teeth. (D)</p> Signup and view all the answers

    What is the estimated prevalence of Down syndrome?

    <p>1 in 600 to 1 in 800 people (D)</p> Signup and view all the answers

    What are the main oral and dental anomalies associated with Treacher Collins Syndrome?

    <p>Cleft palate, missing or hypoplastic teeth, malocclusion (D)</p> Signup and view all the answers

    What is the likelihood of a child inheriting Treacher Collins Syndrome when one parent has the condition and the inheritance is autosomal dominant?

    <p>50% (D)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of Down syndrome?

    <p>Down slanting palpebral fissures (C)</p> Signup and view all the answers

    Flashcards

    Treacher Collins Syndrome (TCS)

    A hereditary disorder with craniofacial anomalies like ear abnormalities and jaw issues.

    Craniofacial anomalies

    Abnormalities in the structure of the skull and face.

    Coloboma

    A defect in the eye's structure that can affect vision.

    Malar hypoplasia

    Underdevelopment of the cheekbone (malar) area.

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    Dental malocclusion

    Improper alignment of teeth when jaws are closed.

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    Down syndrome (DS)

    A genetic condition caused by trisomy 21, characterized by distinct features and varying intellectual disability.

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    Trisomy 21

    A genetic disorder where a person has three copies of chromosome 21 instead of two.

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    Autosomal dominant inheritance

    A pattern where only one copy of a mutated gene from an affected parent can cause a disorder.

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    Treacher Collins Syndrome

    A genetic disorder characterized by facial bone deformities and ear abnormalities.

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    Hypoplasia

    Underdevelopment or incomplete development of a tissue or organ.

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    Cleft Palate

    A congenital split in the roof of the mouth.

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    Hypoacusis

    Reduced ability to hear; partial deafness.

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    Mental Disability

    A condition that affects cognitive functioning and daily living skills.

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    Hypothyroidism

    A condition in which the thyroid gland doesn't produce enough hormones.

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    Macrocytosis

    The presence of larger than normal red blood cells in the bloodstream.

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    Karyotype

    The number and appearance of chromosomes in the nucleus of a cell, typically used to diagnose genetic disorders.

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    47,XX,+21 or 47,XY,+21

    Specific chromosomal compositions indicating females (XX) or males (XY) with Down Syndrome due to an extra chromosome 21.

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    Translocation

    A genetic condition where a piece of one chromosome breaks off and attaches to another chromosome, sometimes involving chromosome 21.

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    Orofacial characteristics

    Distinct facial features and oral conditions commonly seen in individuals with Down Syndrome.

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    Dental malformations

    Abnormalities in tooth structure and development, including issues like microdontia and delayed eruption prominently seen in DS.

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    Bruxism

    A condition characterized by grinding or clenching of teeth, often observed in people with Down Syndrome.

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    Cariogenic challenge

    The increased risk of tooth decay due to high sugar content in medications, particularly in children with special needs.

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    Cerebral Palsy

    A group of disorders affecting movement and muscle tone, caused by damage to the brain during development.

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    Co-occurrence

    When two or more conditions or disorders occur together in the same individual.

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    Dental treatment under general anesthesia

    A dental procedure performed while the patient is asleep and unaware, often used for uncooperative or anxious patients.

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    Craniofacial morphology

    The study of the shape and structure of the skull and face, often affected in genetic disorders.

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    Orofacial features

    Physical characteristics related to the mouth and face, important in diagnosing syndromes like Treacher Collins.

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    Quality of life in pediatric patients

    A measure of overall well-being in children, especially those with co-existing medical conditions.

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    Oral Health

    The status of the mouth and teeth, affecting overall health and well-being.

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    Down Syndrome

    A genetic disorder caused by the presence of an extra chromosome 21, affecting physical and cognitive development.

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    Multidisciplinary Approach

    A treatment strategy involving professionals from multiple disciplines to address patient needs.

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    Dental Care for Special Needs

    Dental treatment tailored to accommodate individuals with special health challenges like Down syndrome.

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    Caries Experience

    The history or prevalence of dental cavities in individuals, particularly in at-risk groups.

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    Behavior Guidance

    Strategies used by dental professionals to support children in managing anxiety during dental visits.

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    Co-morbidity

    The presence of one or more additional diseases or disorders alongside a primary disease.

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    Systematic Review

    A structured review that collects and evaluates multiple research studies on a specific topic.

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    Comorbidities

    The presence of more than one medical condition in a patient.

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    Behavior Management Techniques

    Methods used to guide and elicit appropriate patient behavior.

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    General Anesthesia (GA)

    A medically induced state for painless and unconscious treatment.

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    Single Treatment Session

    Performing all necessary procedures in one hospital visit.

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    Dental Procedures

    Treatment and care tasks performed on teeth and gums.

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    Preoperative Instructions

    Guidelines given before surgery to ensure patient safety.

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    Postoperative Instructions

    Guidelines given after surgery for recovery.

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    Monitoring Equipment

    Devices used to track a patient's vital signs during procedures.

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    Study Notes

    Treacher Collins and Down Syndromes Co-occurrence

    • Treacher Collins Syndrome (TCS) is a heritable disorder causing craniofacial anomalies.
    • TCS prevalence is estimated at 1:10,000-1:50,000.
    • Inheritance can be autosomal dominant or recessive. A 50% chance a child inherits it if one parent has the syndrome.
    • Oral and dental anomalies are common in TCS, including cleft palate, missing/hypoplastic teeth, and malocclusion.
    • Crowded teeth, transverse maxillary hypoplasia, crossbites, anterior open bite, and Class II molar relationships are also possible aspects.
    • Down Syndrome (DS) is a genetic disorder with chromosome 21 trisomy. Prevalence is 1:600-1:800 live births and increases with maternal age.
    • DS has high variability in prognosis and associated features.
    • Dental malformations are ten times more frequent in DS than the general population.
    • Characteristics include microdontia, agenesis, delayed tooth eruption, and dental morphological alteration, bruxism, periodontal disease, malocclusion, mouth breathing, macroglossia, potential swallowing/chewing difficulties, and oral inflammation.
    • Increased risk of caries due factors including sugar-containing pediatric medications and reduced oral hygiene practices because of behavioral limitations for children with special needs.

    Case Report Details

    • 7-year-old male patient with leukoderma, Down syndrome, and Treacher Collins syndrome.
    • Patient presented with difficulty maintaining oral hygiene.
    • Karyotype was 47,XY,+21.
    • Mother and other family members affected by TCS.
    • Clinical examination revealed eyelid coloboma, absent eyelashes, malar/mandibular hypoplasia, mandibular retrusion, unusual ear morphology, and significant hearing loss.
    • Intraoral examination revealed high cariogenic activity, malocclusion, cleft palate, missing tooth, and extensive caries.
    • Patient's behavior made traditional outpatient care unsuitable.
    • Treatment under general anesthesia was necessary due to the patient's behavior.
    • Procedures included tooth extractions, caries removal, and restorative treatments.
    • The patient presented substantial problems with protein and calorie intake and nutritional deficiencies.
    • Anemia (low RBC, hemoglobin, hematocrit), macrocytosis, and low serum ferritin were also present.
    • Preoperative/postoperative instructions were provided.
    • Long term oral hygiene and prevention strategies were advised and implemented

    Treatment & Implications

    • General anesthesia was necessary due to the patient's behavior.
    • Extensive dental treatment, including extractions and restorations, was conducted during the single anesthetic session.
    • Parents were provided with information and training about oral hygiene management at home.
    • Patient was referred for routine follow-up appointments for continued oral health maintenance.

    Conclusion and Recommendations

    • Oral health and overall health are interconnected, and successful treatment relies on understanding the patient's entire health picture.
    • Patients with special needs may require unique approaches to dental care, potentially involving general anesthesia.
    • Multidisciplinary efforts, involving dentists, physicians, and nutritionists, may be necessary to provide comprehensive treatment.

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    Description

    Explore the co-occurrence of Treacher Collins Syndrome and Down Syndrome, two genetic disorders with significant craniofacial and dental implications. This quiz covers key features, prevalence, and associated dental anomalies of both conditions. Test your knowledge on their genetic inheritance and clinical characteristics.

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