Summary & Description
Phenylketonuria (PKU) - a rare, inherited disorder that causes the build up of the amino acid phenylalanine (Phe), which is found in protein. This is due to a deficit in the enzyme, phenylalanine hydroxylase (PAH), which normally breaks down this amino acid.
- Etiology - PKU is an autosomal recessive condition: Both parents must be carriers of the gene defect, and they each pass on the gene to the child.
- Diagnosis - In the US, all infants are screened for PKU. Typically, a child with PKU will begin showing symptoms a few months after birth.
- Classifications of Severity - Classic PKU (most severe), Moderate or Mild PKU, Benign PKU (PAH activity is low, but no dietary restrictions)
- Prevalence - Approximately 14,500 people in US living with PKU. About 1 in 10,000 to 20,000 infants are diagnosed with PKU in the US.
Thyroid Disorders - a disorder caused by the dysfunction of the thyroid gland. Two main types: Hyperthyroidism, or an overactive thyroid, occurs when too much thyroid hormone being released into the blood. Hypothyroidism, or an underactive thyroid, occurs when not enough of the thyroid hormone is released into the blood.
- Etiology - Low amounts of iodine in diet. Common cause of hyperthyroidism is Grave's disease, which involves antibodies stimulating the thyroid gland. Common cause of hypothyroidism is Hashimoto's thyroiditis, which involves antibodies destroying the thyroid gland.
- Diagnosis - For hyperthyroidism, the pediatrician will perform a physical examination and run tests to determine the thyroid hormone levels in the blood. For hypothyroidism, all babies are screened at birth.
- Signs & Symptoms - Hyperthyroidism: anxious, difficulty focusing, increased appetite without weight gain, sweating, difficulty sleeping; Hypothyroidism: sluggish, low energy level, weight gain without increased appetite, feeling cold in room temperature
- Prevalence - Considered to be rare: 37 in 1000 school-age children
Hunter Syndrome - an incurable mucopolysaccharide disease, also called MPS II, that causes progressive damage because of the build up of mucopolysaccharides
- Etiology - Inheritance of a defective gene that causes the malfunction or absence of the enzyme iduronate sulfatase, which is needed to break down mucopolysaccharides
- Diagnosis - The pediatrician conducts urine, blood, and tissue sample tests to determine if there is too much mucopolysaccharides or an absence of iduronate sulfatase.
- Classifications of Severity - Juvenile form (severe, early onset); Late form (mild)
- Signs & Symptoms - Juvenile form: aggressive, hyperactive, severe intellectual disability, spasticity; Late form: mild to no cognitive deficiency; Symptoms for both forms includes joint stiffness, large head, and increasing deafness
- Prevalence - about 1 in 25,000 births in the US; 1 in 100,000 to 150,000 males
Language & Learning Implications
- poor memory
- lack of self-control
- poor visual motor skills
- difficulty maintaining focused on a task
- low energy level (fatigue)
- intellectual disability
- behavioral disorders
- emotional disorders
Strategies for the Classroom
- Break down tasks and assignments into small steps, introducing each step one at a time, to avoid overwhelming the student
- Use a hands-on approach to learning, ensuring the material being taught is concrete and observable
- Use visual aids (i.e. charts, graphs, pictures) to help with organization and memory
- Provide immediate feedback
- Introduce rewards for completing learning activities and achieving other tasks that may be difficult (e.g. staying organized)
- Use activities that require interaction and movement to keep the student engaged and prevent distraction of other students with fidgety behavior
- Choose a peer helper to help the student stay focused and lessen behavior that distracts the other students
- Extended time to complete assignments and exams
- Scheduled rest periods throughout the day
- Allow students to have shorter days in school instead of attending for a full day
Important to remember that many difficulties associated with metabolic disorders can be lessened and/or avoided if the child is eating the proper diet and/or taking the proper medication. It is important to understand the child's dietary restrictions because this may have an affect his/her performance during the school day, as well as their overall health.
Tools for the SLP
When deciding the tools and techniques to implement in the therapy setting, it is important to consider the characteristics of the specific metabolic disorder the child has. Below are links to tools and techniques that address some deficits exhibited by children with metabolic disorders that can be used in conjunction with speech-language tasks:
Executive Functioning Activities
Addressing Inattention, Impulsiveness, Hyperactivity in Therapy Sessions http://www.smartspeechtherapy.com/in-case-you-missed-it-how-to-successfully-address-clients-inattention-impulsivity-and-hyperactivity-in-therapy-sessions/
Material Ideas for Intellectual Disabilities https://www.pinterest.com/pin/204913851768892589/
Using AAC Devices with Students with Intellectual Disabilities
Teaching Self-Control with Bubbles
Resources and Links
Children Living with Inherited Metabolic Disorders - provides research funding and support for families with children with inherited metabolic disorders
Children's PKU Network - provides education and assistance for families affected by PKU
National MPS Society - supports those affected by MPS diseases through research, advocacy, and awareness
National Organization for Rare Disorders - provides education, advocacy, research, and service to identify, treat, and cure rare disorders
http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat5 - information provided by NIH U.S. National Library of Medicine regarding metabolic disorders, with list of specific disorders and links to more information
About pku (2014). Retrieved from http://www.npkua.org/Education/AboutPKU.aspx
About thyroid function and disorders (2015). Retrieved from http://www.chop.edu/conditions-diseases/pediatric-thyroid-disorders/about#.VUIScqLD_IV
Causes of speech and language disorders (2014). Retrieved from http://www.chihealthstelizabeth.com/index.php?option=com_content&task=view&id=294
Chronic fatigue syndrome (CFS) (2015). Retrieved from http://www.cdc.gov/cfs/pediatric/factsheets/Education-Professionals.html
Dowshen, S. (2012). Thyroid disorders. Retrieved from http://kidshealth.org/kid/health_problems/glandshoromones/thyroid.html#
Endocrine and immune system conditions: Thyroid problems (2015). Retrieved from http://www.seattlechildrens.org/medical-conditions/endocrine-immune-system-conditions/thyroid-problems/
Metabolic disorders (2015). Retrieved from http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat5
Moltz, K. (2015). Common signs of thyroid disease in children. Retrieved from http://www.childrensdmc.org/?id=2382&sid=1
Pediatric thyroid disease (2012). Retrieved from https://www.surgery4children.com/diagnoses-and-treatment/neck/305-thyroid-disease-in-children
Phenylketonuria (2012). Retrieved from http://ghr.nlm.nih.gov/condition/phenylketonuria
Reynolds, T., Zupanick, C. E., & Dombeck, M. (2013). Effective teaching methods for people with intellectual disabilities. Retrieved from https://www.mentalhelp.net/articles/effective-teaching-methods-for-people-with-intellectual-disabilities/
Staff, Mayo Clinic (2012). Diseases and conditions: Hunters syndrome. Retrieved from http://www.mayoclinic.org/diseases-conditions/hunter-syndrome/basics/definition/con-20026538
Staff, Mayo Clinic (2014). Phenylketonuria (PKU). Retrieved from http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275
Wright, J. (2015). School-wide strategies for managing...hyperactivity. Retrieved from http://www.interventioncentral.org/behavioral-interventions/challenging-students/school-wide-strategies-managing-hyperactivity