Tag: childhood disorders

  • Tourette’s Syndrome

    Tourette’s Syndrome: Definition and Description of Tourette’s Syndrome: Tourette’s Syndrome is a neurological disorder characterized by involuntary movements and vocalizations known as tics. It often begins in childhood and is classified as a tic disorder alongside chronic tic disorder and provisional tic disorder. Tics can be motor (e.g., blinking, head jerking) or vocal (e.g., grunting,…

  • RTS — Rett Syndrome

    RTS — Rett Syndrome: Definition and Description of RTS — Rett Syndrome: Rett Syndrome (RTS) is a rare neurodevelopmental disorder primarily affecting females. It is characterized by a period of normal development followed by a loss of purposeful hand skills, impaired speech, and developmental regression. The condition is linked to mutations in the MECP2 gene…

  • Rickets

    Rickets: Definition and Description of Rickets: Rickets is a disorder that results in the weakening and softening of bones in children, primarily due to a deficiency in vitamin D, calcium, or phosphate. This condition leads to skeletal deformities and can hinder physical development. Medically, rickets is characterized by the failure of proper bone mineralization, which…

  • MPS Disorder I

    MPS Disorder I: Definition and Description of MPS Disorder I: MPS (Mucopolysaccharidosis) Disorder I, also known as Hurler syndrome or MPS I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules in the body.…

  • Infantile Myoclonic Encephalopathy

    Infantile Myoclonic Encephalopathy Definition and Description of Infantile Myoclonic Encephalopathy Infantile Myoclonic Encephalopathy (IME) is a rare and serious neurological disorder that primarily affects infants and young children. It is characterized by recurring myoclonic jerks, which are sudden, involuntary muscle spasms. These jerks can involve the arms, legs, and face, leading to significant developmental delays…

  • Hyperactivity, ADHD

    Hyperactivity, ADHD Definition and Description of Hyperactivity, ADHD Hyperactivity, often associated with Attention-Deficit/Hyperactivity Disorder (ADHD), is characterized by excessive movement, impulsivity, and difficulty maintaining attention. ADHD is a neurodevelopmental disorder that affects both children and adults. It is classified into three subtypes: predominantly inattentive presentation, predominantly hyperactive-impulsive presentation, and combined presentation. The disorder can impact…

  • Hurler Disease

    Hurler Disease Definition and Description of Hurler Disease Hurler Disease, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex carbohydrates, known as glycosaminoglycans (GAGs), in the body. The accumulation of these GAGs can…

  • Galactocerebrosidase Deficiency

    Galactocerebrosidase Deficiency Definition and Description of Galactocerebrosidase Deficiency Galactocerebrosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is vital for the breakdown of specific fats in the brain and other tissues. This deficiency leads to the…

  • Eating Disorder, Pica Type

    Eating Disorder, Pica Type Definition and Description of Eating Disorder, Pica Type Eating Disorder, Pica Type is characterized by the persistent consumption of non-nutritive, non-food substances for a duration of at least one month. This behavior diverges from culturally supported practices and can occur in various populations, including children and adults. The Diagnostic and Statistical…

  • CP

    CP Definition and Description of CP Cerebral Palsy (CP) is a group of permanent movement disorders that appear in early childhood. It is characterized by variable levels of muscle stiffness or weakness and can affect an individual’s posture, movement, and coordination. The term “cerebral” pertains to the brain, while “palsy” refers to weakness or problems…