Biological Environmental Causes of Exceptional Disabilities

• Childhood-Onset Fluency Disorder (Stuttering): a disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual’s age.
• Mitosis: type of cell division that results in two daughter cells each having the same number and kind of chromosomes as the parent nucleus, typical of ordinary tissue growth.
• Republic Act 9288 or Newborn Screening Act of 2004: became into one of the essential newborn care practices that have been declared law in the Philippines
• We called this process Organogenesis, also one of the major developments in the Embryonic period.


  Ectoderm
• A special test that is performed on the newly born baby around 1 (one) to 3 (three) days old to check and detect if there are an abnormality in the blood before the symptoms appear.

  Newborn Screening
• Conception: when two parental cells, with their unique genetic contributions, merge to create a new individual.
• Glucose-6-Phospate Dehydrogenase Deficiency (G6PD): Most common deficiency that was detected in the Philippines.
• Phenylketonuria: inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.
• The Fetal Period (lasts about 7 months): the prenatal period that extends from two months after conception until birth in typical pregnancies.
• Sex-Linked Chromosome Abnormalities:

  • Klinefelter syndrome
  • Fragile X syndrome (FXS)
  • Turner Syndrome
• Global Developmental Delay: When an individual fails to meet expected developmental milestones in several areas of intellectual functioning, and applies to individuals who are unable to undergo systematic assessments of intellectual functioning, including children who are too young to participate in standardized testing.
• Prenatal development lasts approximately 266 days, beginning with fertilization and ending with birth.
• The procedure is carried out by pricking the infant’s heel and depositing a few drops of blood on a certain filter paper.

  Newborn Screening Procedure
• Newborn Screening Procedure includes blood, hearing and heart screening:

  1. Blood Test
  2. Automated Auditory Brain Stem Response (AABR Test)
  3. Otoacoustic Emissions (OAE) Test
  4. Pulse Oximetry
• DNA: structure defines the basic genetic makeup of our body.
• The mass of cells is now called an Embryo, and three layers of cells form:

  • Endoderm
  • Mesoderm
  • Ectoderm
• Attention-Deficit or Hyperactivity Disorder: a persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development.
• Addition to describing prenatal development in terms of germinal, embryonic, and fetal periods, prenatal development.

  Trimester
• To identify newborns who appear healthy but could be risk of developing rare conditions that can lead to serious complications and if left untreated it leads to mental retardation or even death.

  Purpose of Newborn Screening
• Fragile X syndrome: an inherited condition that causes developmental delays, intellectual disabilities, learning and behavioral issues, physical abnormalities, anxiety, attention-deficit/hyperactivity disorder and/or autism spectrum disorder, among other problems; It’s the most common form of inherited intellectual and developmental disability (IDD).
• Tic Disorders: Tourette’s disorder, persistent (chronic) motor or vocal tic disorder, provisional tic disorder, and the other specified and unspecified tic disorders
• Pregnancy can be divided into three periods:

  1. The Germinal Period
  2. The Embryonic Period
  3. The Fetal Period (lasts about 7 months)
• Specific Learning Disorder: persistent difficulties learning keystone academic skills, with onset during the years of formal schooling.
• As NBS continue to progress, there are at least 35 health condition that can discover through Newborn Screening which are divided into six groups:

  1. Organic acid metabolism disorder
  2. Fatty acid oxidation disorders
  3. Amino acid metabolism disorders
  4. Endocrine disorders
  5. Hemoglobin disorders
  6. Other disorders
• Genetic disorder caused by the presence of all or part of a third copy of chromosome 21; usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.

  Chromosome Abnormalities: Down Syndrome (Trisomy 21)
• Ovulation: when an ovum or egg which has been stored in one of the mother's two ovaries matures and is released into the fallopian tubes
• Three months after conception (13 weeks), the fetus is about 3 inches long and weighs about four-fifths of an ounce.

  The Fetal Period
• It begins in the early 1960s by American microbiologist Robert Guthrie who saw the potential advantage in phenylketonuria (PKU) being diagnosed early.


  History of Newborn Screening
• Meiosis: type of cell division that results in four daughter cells each with half the number of chromosomes of the parent cell, as in the production of gametes and plant spores
• Developmental Coordination Disorder: A delay in acquiring and displaying motor function.
• During the eighth and ninth months, the fetus grows longer and gains substantial weight about 4 more pounds.

  The Fetal Period
• Tay-Sachs Disease: The fovea 's center appears bright red because it is surrounded by a whiter than usual area; a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord
• Gene: a sequence of nucleotides in DNA or RNA that encodes the synthesis of a gene product, either RNA or protein.
• The Germinal Period: Period of prenatal development that takes place in the first two weeks after conception
• As early as six months of pregnancy (about 24 to 25 weeks after conception), the fetus for the first time has a chance of surviving outside the womb.

  The Fetal Period
• To detect readily treatable disorders that are threatening to life or long-term health before they become symptomatic.

  Purpose of Newborn Screening
• Social (Pragmatic)Communication Disorder: characterized by a primary difficulty with pragmatics— the social use of language and communication— as manifested by deficits in understanding and following social rules of both verbal and nonverbal communication in naturalistic contexts, changing language according to the needs of the listener or situation, and following rules for conversations and storytelling.
• “Human Life begins at Conception —a union of sperm cell an egg cell to form a new organism”
• Genetic Principles:

  • Dominant and recessive genes
  • Sex-linked genes
  • Polygenic Inheritance
• Mesoderm: middle layer or produces parts that surround internal areas