fragile-x-syndrome-and-cystic-fibrosis-activity-3-1.pdf

An introductory presentation Fragile X Syndrome and Cystic Fibrosis  Learning Points Define disorders Describe and gives Explain the such as Fragile X information about difference between syndrome and Cystic the said disorders. Fragile X syndrome Fibrosis...

An introductory presentation Fragile X Syndrome and Cystic Fibrosis  Learning Points Define disorders Describe and gives Explain the such as Fragile X information about difference between syndrome and Cystic the said disorders. Fragile X syndrome Fibrosis. and Cystic Fibrosis.  The Genetics of Fragile X FRAGILE X SYNDROME Fragile X Syndrome is a genetic disorder caused by a mutation on the X chromosome that leads to developmental delays, intellectual disabilities, and behavioral issues. Fragile X Sydrome  Definition Fragile X Syndrome is a condition that affects a child's learning, behavior, appearance, and health. Symptoms can be mild or more severe. Doctors also call it Martin-Bell syndrome. Boys often have a more serious form of it than girls.  TYPES OF MUTATION The primary mutation in fragile X The normal of FMR1 the gene is typically has between 5 to 44 CGG repeats. In syndrome is the expansion of a Premutation If there are 55 to 200 CGG repetitive DNA sequence called CGG repeats, it is called a premutation. repeats in the FMR1 gene. People with a premutation may not show symptoms but can pass it to their Gene Involved is the FMR1 gene on children. In Fully mutation 200 CGG repeats, the the X chromosome. gene is fully mutated. Signs And Symtopms  Signs and Symptoms Fragile X syndrome affects the child’s intelligence, mental health, physical features and behavior. Common fragile X syndre symptoms in each category include:  Signs People with FXS are likely to have Long Narrow Face, Large Forehead, Ear & Jaw, Soft Skin, and a Cross Eye. Female are less likely to receive FXS due to them having 2 X Chromosome cause if one is is impacted, some FMRP can still be produced due to the other X chromosome, however it can still lead to FXS but less severe.  Symptoms Due to the genetic mutation. People with FXS will typically have a lower IQ, averaging at 40; they will also have short-term memory, delayed speech, and poor eye contact. They also have a chance to be born with Autism, ADHD, Anxiety (Disorder Edition), and OCD. They are also prone to seizures and developing depression.  Signs and Symptoms Fragile X syndrome affects your child’s intelligence, mental health, physical features and behavior. Common fragile X syndrome symptoms in each category include: Learning Disabilities It makes it harder for someone to learn, understand or do things. Delayed development of nonverbal communication Affected individuals usually have delayed development of speech and language by age 2. Anxiety, Depression, Obsessive-compulsive Behavior Children with fragile X syndrome may also have anxiety and hyperactive behavior Diagnostic And Evaluation  Diagnostic & Evaluation How is fragile X syndrome diagnosed? Prenatal Tests: Diagnosing fragile X syndrome requires a Prenatal testing is a way to DNA sample from your child’s blood or measure a pregnancy's risk for other tissues. FMR1 (Fragile X messenger several common genetic ribonucleoprotein 1) is a human gene that conditions, including Down codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. syndrome. Whether to have This protein, most commonly found in these tests is up to the the brain, is essential for normal cognitive individual. development and female reproductive function. Diagnostic & Evaluation Diagnostic test should include: Amniocentesis Amniocentesis is a prenatal test Prenatal Test (if applicable) that can detect chromosomal differences, such as those that Amniocentesis: A healthcare provider cause Down syndrome, as well as takes a sample of the amniotic fluid for extra or missing pieces of testing. chromosomes, called copy Chorionic villus sampling: A healthcare number variants, some of which provider takes a sample of cells from the are associated with certain placenta for testing. conditions. Diagnostic & Evaluation Diagnostic test should include: Clinical Evaluations Genetic or Carrier Testing Chorionic villus sampling (CVS) is a The test can be done in prenatal test used to detect genetic two ways: conditions or chromosomal Transcervical abnormalities in a developing baby, Transabdominal such as Down syndrome or fragile X syndrome. Diagnostic & Evaluation Diagnostic test should include: Newborn Screening (not routine) Karyotyping a standard karyotype and DNA testing are suggested when a possible diagnosis of fragile X syndrome is considered. The criterion standard diagnostic test involves molecular genetic techniques that detect the FMR1 gene. Diagnostic & Evaluation At what age is fragile X syndrome diagnosed? Children assigned male at birth (AMAB) usually receive a diagnosis at 35 to 37 months old. Children assigned female at birth (AFAB) may receive a diagnosis a little later — at about 42 months old. But you may start to notice symptoms in your child as early as 12 months.  Management And Monitoring Management / Monitoring Fragile X Syndrome has no cure, but therapies and medications can help manage symptoms. Treatment is supportive and involves a multidisciplinary team, focusing on anxiety reduction, behavior modification, and managing associated psychiatric disorders. Individual education plans are crucial for school-age children. Management / Monitoring Monitoring patients with Fragile X Syndrome require regular psychotherapy to track progress and an updated Individualized Education Plan (IEP) for school. Routine checks should include growth, hearing, vision, and speech. Psychological support, family counseling, and monitoring medication effects are essential. Ensure social skills support, a safe environment, and emergency plans. Regular specialist follow- ups are important for comprehensive care. References : Fragile X Syndrome (FXS). (2024, May 1). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/5476-fragile-x-syndrome Benisek, A. (2024b, June 1). What is Fragile X Syndrome? WebMD. https://www.webmd.com/children/what-is-fragile-x-syndrome UpToDate. (n.d.). UpToDate. https://www.uptodate.com/contents/fragile-x-syndrome- management-in-children-and-adolescents Fragile X syndrome. (n.d.). Mencap. https://www.mencap.org.uk/learning-disability- explained/learning-disability-and-conditions/fragile-x-syndrome Fragile X syndrome: MedlinePlus Genetics. (n.d.). https://medlineplus.gov/genetics/condition/fragile-x-syndrome/  CYSTIC FIBROSIS Cystic fibrosis (CF) is a genetic disease that causes sticky, thick mucus to build up in your organs, blocking and damaging them. This damage, plus the thick mucus, can blocked ducts that release digestive enzymes, making it hard to get nutrients from your digestive tract. People with cystic fibrosis are born with it. It’s a lifelong illness that gets more severe over time. Most people with CF don’t live as long as people without it.  TYPES OF MUTATION 1. Protein Production Mutations: 1) Protein production, 2) Protein processing Protein production mutations, including 3) Gating nonsense and splice mutations, disrupt the production of the CFTR protein. The CFTR 4) Conduction protein is made up of amino acids linked 5) Insufficient protein. into a long chain. The gene's instructions contain a stop signal, which if a nonsense mutation occurs, causes the protein to stop prematurely. This results in no functional CFTR protein. Correcting the mutation can help produce a normal CFTR protein. TYPES OF MUTATION 2. Protein Processing Mutations The CFTR protein, composed of 1,480 amino acids, forms a stable 3-D shape when correctly shaped. However, mutations, such as the F508del mutation, can cause the protein to lose or add an incorrect amino acid, preventing its proper function. Missense mutations, like F508del, can cause processing problems by introducing an incorrect amino acid into the CFTR protein, leading to decreased protein quantity or function. TYPES OF MUTATION 3. Gating Mutation Gating mutations in the CFTR protein, which resemble a channel with a gate, prevent chloride from flowing through the channel. Kalydeco® (ivacaftor) helps individuals with gating mutations by forcing the gate open. TYPES OF MUTATION 4. Conduction mutations Conduction Mutation in CFTR cause the protein to change its 3-D shape, preventing chloride from moving smoothly through its channel. These mutations alter the channel's shape, affecting the protein's function. TYPES OF MUTATION 5. Insufficient protein mutations Insufficient protein mutations cause a reduced amount of normal CFTR protein at the cell surface due to limited production, insufficient functioning, or rapid degradation. This results in residual function of the chloride channel. Mutations, including missense and splice, can interfere with the cell's DNA reading, resulting in insufficient protein. Signs And Symtopms  Respiratory Signs Respiratory: A persistent cough that produces thick mucus Wheezing Breathlessness Exercise intolerance Repeated lung infections Inflamed nasal passages  Digestive Signs Digestive: Foul-smelling, greasy stools Poor weight gain and growth Intestinal blockage, particularly in newborns Severe constipation  Respiratory Symptoms Due to the sticky mucus, it clogs the tubes of your lung causing some symptoms: Persistant Coughing Frequent Wheezing Frequent Sinusitis Trouble breathing Frequent Lung Infection There is also a high risk of getting Respiratory diseases like Bronchitis.  Digestive Symptoms The sticky mucus blocks the tubes that carries the digestive enzymes from your pancreas to your small intestine giving this symptoms: Malnutrition Poor weight gain Chronic Constipation Loose, Oily, and Foul Stool There is also a high risk getting Digestive Diseases like Diabetes. Diagnostic And Evaluation Diagnostic & Evaluation SWEAT CHLORIDE TEST A sweat sample is collected using a special sweat stimulation procedure. Below is one example: Newborn Screening Tests If you're expecting a baby, you are already thinking about the steps needed to safeguard their health. Part of this is knowing about the screening tests your child will have before leaving the hospital. Diagnostic & Evaluation Genetic or Carrier Test Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease. Clinical Care Guidelines To ensure that people with CF continue to experience steady gains in length and quality of life, the Foundation helps its accredited care centers provide a standard of CF care with guidelines. We base guidelines on the latest research, medical evidence, and consultation with experts on best practices. Diagnostic & Evaluation If you show symptoms of Diagnosing CF is a multistep cystic fibrosis or your baby process. has a positive newborn screen for CF, a sweat test at A complete diagnostic evaluation a CF Foundation-accredited should include: care center can help provide newborn screening a CF diagnosis by measuring the concentration of salt in sweat chloride test your or your baby's sweat. genetic or carrier test The test is painless and is the clinical evaluation at a CF most reliable way to Foundation-accredited care center diagnose CF. Diagnostic & Evaluation How or when is cystic fibrosis usually diagnosed? Most cases are now detected soon after birth through newborn screening, but older children and adults with symptoms of cystic fibrosis who weren't screened can also have tests to check for the condition.  Management And Monitoring  MONITORING and MANAGEMENT By treating the underlying cause of CFTR malfunction, CFTR modulators (such as ivacaftor, Ivacaftor, lumacaftor, lumacaftor, tezacaftor, and elexacaftor) have tezacaftor, and transformed the treatment of cystic fibrosis (CF) elexacaftor over the past ten years, improving lung function, GENETIC TESTING nutritional status, and disease stabilization for many CLINIC VISITS patients. Genetic testing is used to customize these medicines, requiring the identification of particular CFTR gene variations prior to treatment. Patients with cystic fibrosis (CF) should have routine clinic visits where their pulmonary function is checked. References : Cystic fibrosis: management and monitoring of respiratory manifestations - The Pharmaceutical Journal. (2024, July 3). The Pharmaceutical Journal. https://pharmaceutical-journal.com/article/ld/cystic-fibrosis-management-and-monitoring- of-respiratory-manifestations American Lung Association. (n.d.). Diagnosing and treating cystic fibrosis. https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/treating-and- managing#:~:text=Regular%20check%2Dups%20with%20your,tests%20depending%20on%2 0your%20condition. Types of CFTR mutations. (n.d.). Cystic Fibrosis Foundation. https://www.cff.org/research-clinical-trials/types-cftr- mutations#:~:text=There%20are%20five%20classes%20of,different%20types%20of%20CFTR %20mutations.%20( Treatment | NHLBI, NIH. (2023, November 21). NHLBI, NIH. https://www.nhlbi.nih.gov/health/cystic-fibrosis/treatment Cystic fibrosis. (2024b, August 7). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis Testing for CF. (n.d.). Cystic Fibrosis Foundation. https://www.cff.org/intro-cf/testing- cf#:~:text=If%20you%20show%20symptoms%20of,reliable%20way%20to%20diagnose%20C F.