nbs detectable disease cu6b

• Commencement of the Philippine NBS Project in 24 participating hospitals (18 private and 6 government)


  27 June 1996
• Issuance of Pres. Proclamation No. 540 declaring first week of October of each year as National NBS Awareness Week

  20 Jan. 2004
• Enactment of RA 9288 NBS Act of 2004

  7 Apr. 2004
• Inclusion of NBS in the licensing requirement of Philippine hospitals

  22 Jan. 2006
• Inclusion of NBS in PhilHealth NB Care Package

  Dec. 2007
• MSUD inclusion in the NBS Panel of Disorders


  Jan. 2012
• Expanded NBS – inclusion of more than 20+ disorders in the NBS Panel of Disorders


  Dec. 2014
• Full coverage of ENBS in PhilHealth NB Care Package

  Jan. 2019
• T3


  The active form of the thyroid hormone which can readily go into the cells of the body

  
• T4


  The inactive form of the thyroid hormone
• T3 affects almost every physiological process in the body


  T4 is the main hormone
• Most of the T3 are formed in the liver from T4

  T4 is produced in the thyroid gland
• Thyroid gland produces less of the T3 and produces more of the T4 (80% is T4 - more is produced but in inactive form; 20% is T3 – few is produced but in active form)

  
• TSH (pituitary hormone) is needed


  It stimulates the thyroid gland for T4 production

  
• T4 is converted to T3


  By the enzyme iodothyronine deiodinase
• T3


  Has a shorter duration of action
• T4


  Has a longer duration of action
• Liothyronine


  Synthetic form of T3
• Levothyroxine


  Synthetic form of T4
• Congenital Hypothyroidism


  An inborn error of metabolism, occurs as a result of an absent or nonfunctioning thyroid gland
• Congenital Hypothyroidism results in reduced production of both thyroxine (T4) and triiodothyronine (T3)
• Congenital Hypothyroidism is one of the most common preventable causes of mental retardation in children
• According to the Philippine NBS data, (December 2018) 1 out of 2,805 screened newborns has CH

  
• Thyroid dysgenesis (TD)


  The most common etiology of Congenital Hypothyroidism: absent thyroid, ectopic or hypoplastic thyroid

  
• Congenital Hypothyroidism may not initially be noted because of the maternal thyroid hormones circulating in the fetus during pregnancy

  
• Transmission of Congenital Hypothyroidism

  Usually sporadic but if inherited, usually an autosomal recessive transmission
• During the first 3 months of life in a formula-fed infant and at about 6 months of life in a breast-fed infant, the symptoms of Congenital Hypothyroidism become noticeable

  
• If Congenital Hypothyroidism goes unrecognized, both mental retardation and physical developmental retardation occurs
• Medical management of Congenital Hypothyroidism

  Administering daily thyroid hormone replacement in the form of levothyroxine sodium to maintain an adequate level of circulating thyroid hormone
• To avoid delays in cognitive development, the child with Congenital Hypothyroidism is begun on full-dose therapy immediately
• Assessment Findings of Congenital Hypothyroidism

  • Sleepy
  • Enlarged tongue which may cause respiratory difficulty, noisy respiration, or obstruction
  • Trouble feeding because of sluggishness or choking
  • Cold skin
  • Subnormal body temperature secondary to slow BMR
  • Slow pulse, respiratory rate
  • Prolonged jaundice secondary to immature liver's inability to conjugate bilirubin
  • Anemia
  • Short, thick neck
  • Dull facial expression
  • Short. Fat extremities
  • Hypotonic muscles
  • Slow DTR
  • Obesity
  • Dry, brittle hair
  • Delayed dentition or defective teeth
  • Chronic constipation
  • Enlarged abdomen secondary to poor muscle tone
  • Large posterior fontanelle
  • Umbilical hernia
  • Dry, scaly skin
  • Low radioactive iodine uptake
  • Low serum T4 and T3 levels
  • Elevated thyroid-stimulating factor
  • Increased serum lipids
  • No femoral epiphyseal line or delayed bone growth on x-ray film
• Nursing Implications for Congenital Hypothyroidism


  • Discuss the disorder with the parents and the necessity to begin medical therapy immediately for life
  • Educate the parents and child about the purpose and type of medication to be taken
  • Teach the parents always to have a supply on hand for vacations and holidays
  • Involve the child as soon as possible in administering medication
  • Ensure that the family and child understand the importance of adequate thyroid hormone levels
  • Remind the parents and the child that periodic monitoring of T3 and T4 helps to ensure appropriate medication dosage
  • Teach the parents and child to be alert to signs of underdosage and overdosage and to alert the physician at once
  • Remind parents that they must consider all medicine a potential poison and keep it out of the children's reach
  • Help the family adapt to this chronic condition and have it become a normal part of their lifestyle

  
• Levothyroxine


  Tasteless and can be crushed
• Symptoms of Levothyroxine Overdose

  • Tachycardia
  • Insomnia
  • Dyspnea
  • Irritability
  • Fever
  • Sweating
  • Weight loss
• Symptoms of Inadequate Levothyroxine Treatment

  • Fatigue
  • Sleepiness
  • Decreased appetite
  • Constipation
• Congenital Adrenal Hyperplasia


  An inherited autosomal recessive trait
• In about 90% of Congenital Adrenal Hyperplasia, it is due to 21-dydroxylase deficiency. Others are due to cholesterol desmolase 11β-hydroxylase deficiency, 17β-hydroxylase deficiency and 3β-hydroxysteroid dehydrogenase
• Philippine NBS data as of December 2018 reports that 1 out of 19,668 screened newborns have CAH

  
• When the adrenal gland cannot produce cortisol

  The amount of pituitary adrenocorticotrophic (ACTH) hormone increases, stimulating the adrenal glands to improve function

  
• The adrenal gland then becomes hyperplastic (enlarged), not producing cortisol but overproducing androgen