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Biotinidase Deficiency Biotinidase deficiency is an inherited disorder that affects how the body is able to process biotin. People will be diagnosed for biotinidase deficiency before they start showing symptoms. The symptoms presented include developmental delay, hair loss, seizures, and skin rash.[1] Treatment for biotinidase deficiency is biotin supplementation therapy every day. The treatment demonstrated developmental delay improvement within weeks of therapy.[2]

Human Immunodeficiency virus (HIV) A risk factor for delayed milestones are infants that have direct contact with their mother's fluids who are HIV positive or suspected and become infected.[3] There is improvement with developmental milestones for infected infants treated by antiretroviral therapy compared to infected infants who are not. Important to note, infected infants treated for HIV demonstrated delayed milestones compared to infants who are not infected with HIV.[4]

Inherited Metabolism Disorder There are children with inherited metabolism disorders that can be treated to help improve development. According to the study, treatments included the following types of therapies:[5]

  • dietary restrictions/supplement
  • co-factor/-enzyme
  • vitamin
  • substrate inhibitions
  • substrate reduction
  • enzyme replacement
  • bone marrow and hematopoietic stem cell transplant
  • gene

Language and Speech Many children have different forms of language and speech disorders, which can be classified as primary disorder or disorders secondary to known conditions. Secondary and tertiary prevention can be detected if the child has other health conditions such as autism, cleft palate, global developmental delay and intellectual disability, hearing loss, known genetic variation, neurological disorder, or other health conditions. [6] The treatment for children with language and speech delay is a speech language pathologist. Speech and language therapy has demonstrated improvement in some disorders, but not all.[6]

Physiotherapy A case study of a child born prematurely demonstrated improvement in developmental milestones with the use of physiotherapy.[7]

Recurrent Depletion Recurrent depletion is when there are different findings that do not match with any recognizable syndrome. Recurrent depletion is mostly passed down from the parent to the child. The treatment for recurrent depletion is treating the specific clinical findings that the person has. People with developmental delays were treated with developmental therapies and specific learning styles.[8]

References

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  1. ^ Wolf, Barry (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Biotinidase Deficiency", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301497, retrieved 2023-07-31
  2. ^ Wolf, Barry (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Biotinidase Deficiency", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301497, retrieved 2023-07-31
  3. ^ Abbas, Malak; Bakhtyar, Arsala; Bazzi, Rima (2023), "Neonatal HIV", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 33351437, retrieved 2023-07-27
  4. ^ Benki-Nugent, Sarah; Wamalwa, Dalton; Langat, Agnes; Tapia, Kenneth; Adhiambo, Judith; Chebet, Daisy; Okinyi, Helen Moraa; John-Stewart, Grace (2017-12). "Comparison of developmental milestone attainment in early treated HIV-infected infants versus HIV-unexposed infants: a prospective cohort study". BMC Pediatrics. 17 (1). doi:10.1186/s12887-017-0776-1. ISSN 1471-2431. PMC 5240280. PMID 28095807. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  5. ^ van Karnebeek, Clara D.M.; Shevell, Michael; Zschocke, Johannes; Moeschler, John B.; Stockler, Sylvia (2014-04). "The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource". Molecular Genetics and Metabolism. 111 (4): 428–438. doi:10.1016/j.ymgme.2014.01.011. {{cite journal}}: Check date values in: |date= (help)
  6. ^ a b Feldman, Heidi M. (2019-08-01). "How Young Children Learn Language and Speech". Pediatrics In Review. 40 (8): 398–411. doi:10.1542/pir.2017-0325. ISSN 0191-9601. PMC 7236655. PMID 31371633.{{cite journal}}: CS1 maint: PMC format (link)
  7. ^ Sant, Namrata; Hotwani, Rinkle; Palaskar, Pallavi; Naqvi, Waqar M; Arora, Sakshi P (2021-07-23). "Effectiveness of Early Physiotherapy in an Infant With a High Risk of Developmental Delay". Cureus. doi:10.7759/cureus.16581. ISSN 2168-8184. PMC 8380408. PMID 34434678.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  8. ^ Girirajan, Santhosh; Pizzo, Lucilla; Moeschler, John; Rosenfeld, Jill (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "16p12.2 Recurrent Deletion", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 25719193, retrieved 2023-07-31