Pediatric Genetics

Paediatric genetics is a subspecialty of paediatric medicine. It is concerned with identifying, treating, and managing genetic abnormalities in young patients. To address a wide range of hereditary problems that impact a child’s growth, development, and general health, this interdisciplinary discipline of medicine integrates parts of clinical paediatrics, biochemistry, and genetics. Since genetics examines how genes and heredity affect a child’s growth and general health, it is essential to paediatric healthcare. Understanding genetic variables is crucial for early identification, management, and customised treatment plans for a range of paediatric diseases.

Recent developments in genetic testing technology and research have significantly increased our understanding of genetic diseases, resulting in more precise diagnoses and more potent treatment alternatives. Apollo Hospitals is a well-known healthcare facility at the forefront of paediatric genetics. Apollo Hospitals is a leader in the field, providing comprehensive services and expertise to meet the specific requirements of children with genetic problems.

Paediatric Genetics at Apollo Hospitals

Apollo Hospitals, with its state-of-the-art infrastructure and interdisciplinary team of specialists committed to providing individualised treatment to children and their families, has made a name for itself as the leader in paediatric genetics. The hospital’s paediatric genetics department offers a comprehensive variety of services, including genetic counselling, diagnostic testing, and customised treatment regimens based on each child’s requirements. Paediatricians, geneticists, genetic counsellors, nurses, and other medical experts collaborate at Apollo Hospitals to offer children with genetic abnormalities comprehensive treatment.

Common Conditions Treated at Pediatric Genetics

Apollo Hospitals is an expert in diagnosing and treating several hereditary illnesses that impact children. The following are a few of the typical ailments that the paediatric genetics department treats:

• Lysosomal Storage Disorders: These are genetic conditions brought on by a lack of particular enzymes that the lysosomes of cells utilise to break down different substances. Gaucher disease, Pompe disease, and Tay-Sachs disease are a few examples.
• Metabolic Bone Diseases: Conditions include osteogenesis imperfecta and hypophosphatasia that impact the health and metabolism of bones.
• Inherited Cardiovascular Conditions: These are genetic disorders such as hypertrophic cardiomyopathy and Marfan syndrome that impact the heart and blood vessels.
• Inborn Errors of Metabolism (IEMs): A class of hereditary illnesses known as Inborn Errors of Metabolism (IEMs) cause abnormalities in several different metabolic pathways.
• Mitochondrial Disorders are hereditary illnesses that limit energy generation by affecting the mitochondria, the cell’s power plants. Mitochondrial diseases may extensively impact different organ systems.
• Cystic Fibrosis: A hereditary condition that affects the reproductive, digestive, and respiratory systems and can cause organ damage and thick mucus production.
• Chromosome Abnormalities: Disorders like Down syndrome, Turner syndrome (Monosomy X), and Klinefelter syndrome (XXY) result from changes in the number or structure of chromosomes.
• Neurogenetic Disorders: Hereditary disorders primarily affect the neurological system, including muscular dystrophies, neurofibromatosis, and Rett syndrome.
• Skeletal Dysplasias: Genetic diseases that impact the development of bone and cartilage, leading to skeletal deformities and different types of dwarfism.
• Inherited Metabolic Disorders of the Brain: These include urea cycle diseases and phenylketonuria (PKU) that affect brain function due to metabolic disruptions.
• Primary Immunodeficiencies are genetic diseases that make it more difficult for the immune system to fight infections, making a person more vulnerable to them.

Procedures Performed at Pediatric Genetics

A broad spectrum of treatments is available to diagnose and treat genetic abnormalities at Apollo Hospitals’ paediatric genetics department. These processes might consist of:

• Genetic Testing: A child’s DNA must be analysed to find mutations or anomalies in specific genes linked to genetic diseases. Numerous techniques can be used for genetic testing, including whole exome or whole genome sequencing, chromosomal microarray analysis, and targeted gene sequencing.
• Prenatal Genetic Screening and Counselling: This involves screening tests and genetic counselling to expectant mothers to determine the child’s chance of inheriting certain genetic disorders.
• Newborn Screening: Testing babies soon after birth to find genetic diseases that may not be visible at birth but can cause severe health problems if addressed.
• Diagnostic Testing: As previously indicated, various diagnostic tests are carried out to pinpoint particular genetic and metabolic conditions. These tests involve cytogenetic analysis, enzyme assays, metabolic screening, and genetic testing.
• Genetic and Metabolic Management Plans: Once a diagnosis has been made, every child has a customised management plan created. This plan could include medication, enzyme replacement therapy, dietary changes, and other medical procedures.
• Genetic Counselling: Provide families with thorough counselling services, including risk assessment, information on genetic disorders, and possible treatments.
• Nutritional Support: Children with metabolic disorders frequently must follow specific dietary guidelines to manage their diseases. Metabolic dietitians create and implement individualised nutrition programs in close collaboration with the medical staff.
• Enzyme Replacement Therapy (ERT): Enzyme replacement treatment can substitute the absent or malfunctioning enzyme in enzyme shortages. The child’s quality of life can be enhanced, and symptoms can be lessened using ERT.
• Gene Therapy: Experimental gene treatments may be evaluated for specific genetic problems. The goal of gene therapy is to fix the underlying genetic abnormality causing the illness.
• Long-Term Monitoring: Treating many genetic and metabolic illnesses must be ongoing. Follow-up visits are crucial for tracking the child’s development, modifying treatment plans as necessary, and quickly addressing any new problems.
• Supportive Care and Family Counseling: Paediatric genetics and metabolic medicine focuses on giving the child and their family all-encompassing treatment and support. A vital part of the team’s care is family counselling and emotional and psychological assistance.

What to Expect?

Families can anticipate the following when receiving care at Apollo Hospitals’ paediatric genetics department:

• Comprehensive evaluation: A comprehensive evaluation of the child’s genetic makeup, family history, and medical history to identify the underlying reason for their disease.
• Personalised treatment plans: Customised treatment plans that consider each child’s unique requirements and difficulties while taking their age, the severity of their symptoms, and their family dynamics into account.
• Supportive care: Access to a skilled and compassionate group of medical specialists who accompany children and their families on their healthcare journeys and offer constant advocacy, support, and counsel.
• Collaboration with other specialists: Coordinating treatment for children with complicated genetic abnormalities in a comprehensive manner in partnership with therapists, support services, and other medical professionals.

Paediatric genetics is essential for recognising, diagnosing, and treating genetic problems in children. Apollo Hospitals provides a wide range of services and specialised expertise to address the particular requirements of children patients and their families. Apollo Hospitals aims to enhance the quality of life and results for children with genetic diseases by utilising cutting-edge diagnostic methods, customised treatment programs, and interdisciplinary care.

To schedule an appointment with Apollo Hospitals’ Pediatric Genetics Department, visit our website or download our mobile app. Our hassle-free online booking system lets you quickly arrange appointments from the comfort of your home, eliminating the need for long phone calls or wait periods.