Welcome to the training on XALD: Newborn Screening, Treatment, and Referral provided by Texas Health and Human Services (HHS) and the Texas Department of State Health Services (DSHS).
The goal of this tutorial is to equip birth facilities, Texas Health Steps providers, and other health professionals to screen newborns for X-linked adrenoleukodystrophy (XALD), communicate out-of-range screening results, and provide appropriate referrals and care coordination.
Texas Health Steps providers and other interested health-care professionals.
Specific Learning Objectives
After completing the activities of this module, you will be able to:
- Summarize the prevalence and effects of XALD and benefits of screening newborns for the disorder.
- Apply recommendations for responding to out-of-range results for XALD, including referrals, regular monitoring of symptoms, and communication with parents and caregivers.
Please note this module expires on 8/12/2022.
This module was released on 8/12/2019.
Continuing Medical Education
The Texas Department of State Health Services, Continuing Education Service is accredited by the Texas Medical Association to provide continuing medical education for physicians.
The Texas Department of State Health Services, Continuing Education Service designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Continuing Nursing Education
The Texas Department of State Health Services, Continuing Education Service is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center’s Commission on Accreditation. The Texas Department of State Health Services, Continuing Education Service has awarded 0.75 contact hour(s) of Continuing Nursing Education.
The Texas Department of State Health Services, Continuing Education Service under sponsor number CS3065 has been approved by the Texas State Board of Social Worker Examiners to offer continuing education contact hours to social workers. The approved status of The Texas Department of State Health Services, Continuing Education Service expires annually on December 31. The Texas Department of State Health Services, Continuing Education Service has awarded 0.75 contact hour(s) of Continuing Social Work Education.
Certificate of Attendance
The Texas Department of State Health Services, Continuing Education Service has designated 0.75 hour(s) for attendance.
One of the requirements of continuing education is disclosure of the following information to the learner:
- Notice of requirements for successful completion of continuing education activity. To receive continuing education credit the learner must successfully complete the following activities:
- Create a Texas Health Steps account.
- Complete on-line registration process.
- Thoroughly read the content of the module.
- Complete the on-line examination.
- Complete the evaluation.
- Commercial Support.
The THSTEPS Web-based Continuing Education Series has received no commercial support.
- Disclosure of Relevant Financial Relationships.
The THSTEPS Continuing Education Planning Committee has the following relevant financial relationships to disclose:
- Lisa Emrick - Physician - Receives research support from Undiagnosed Diseases Network
- Lisa Emrick - Physician - Consultant for PTC Therapeutics AADC Deficiency
- Lisa Emrick - Physician - Editor at Neurometabolic Disorders Medlink Inc.
- Non-Endorsement Statement.
Accredited status does not imply endorsement of any commercial products or services by the Department of State Health Services, Continuing Education Service; Texas Medical Association; or American Nurse Credentialing Center.
- Off-Label Use.
Using a disclosure review process, the THSTEPS Continuing Education Planning Committee has examined documents and has concluded that the authors of these modules have not included content that discusses off-label use (use of products for a purpose other than that for which they were approved by the Food and Drug Administration).
The following are policies and definitions of terms related to continuing education disclosure:
The intent of disclosure is to allow Department of State Health Services (DSHS) Continuing Education Service the opportunity to resolve any potential conflicts of interest to assure balance, independence, objectivity and scientific rigor in all of its Continuing Education activities.
All faculty, planners, speakers and authors of Department of State Health Services (DSHS) Continuing Education Service sponsored activities are expected to disclose to the Department of State Health Services (DSHS) Continuing Education Service any relevant financial, relationships with any commercial or personal interest that produces health care goods or services concerned with the content of an educational presentation. Faculty, planners, speakers and authors must also disclose where there are any other potentially biasing relationships of a professional or personal nature.
Glossary of Terms
Conflict of Interest: Circumstances create a conflict of interest when an individual has an opportunity to affect Continuing Education content about products or services of a commercial interest with which she/he has a financial relationship or where there are any other potentially biasing relationships of a professional or personal nature.
Commercial Interest: Any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.
Financial Relationships: Those relationships in which the individual benefits by receiving a salary, royalty, intellectual property rights, consulting fee, honoraria, ownership interest (e.g., stocks, stock options or other ownership interest, excluding diversified mutual funds), or other financial benefit. Financial benefits are usually associated with roles such as employment, management position, independent contractor (including contracted research), consulting, teaching, membership on advisory committees or review panels, board membership, and other activities for which remuneration is received or expected. Relevant financial relationships would include those within the past 12 months of the person involved in the activity and a spouse or partner. Relevant financial relationships of your spouse or partner are those of which you are aware at the time of this disclosure.
Off Label: Using products for a purpose other that that for which it was approved by the Food and Drug Administration (FDA).
- ACT sheets. Health-care provider ACTion plans for X-ALD and other congenital disorders from the Texas Department of State Health Services.
- Brochure for parents, “10 Things Parents Want to Know About Newborn Screening,” from Texas Department of State Health Services.
- Case Management for Children and Pregnant Women program, Texas Department of State Health Services.
- Comprehensive Care Program from Texas Medicaid. For information, view the Children’s Services Handbook, Texas Medicaid and Healthcare Partnership.
- Early Childhood Intervention (ECI) Services, Texas Health and Human Services Commission.
- Engelen, M., Kemp, S., de Visser, M., van Geel, B. M., Wanders, R. J., Aubourg, P., & Poll-The, B. T. (2012). X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet journal of rare diseases, 7, 51. doi:10.1186/1750-1172-7-51
- FACT sheets about X-ALD and other congenital disorders for parents, families, and caregivers from the Texas Department of State Health Services.
- Form to Refuse the Newborn Screening Blood Test in Texas from the Texas Department of State Health Services.
- Newborn Screening Benefits Program from the Texas Department of State Health Services.
- Newborn Screening Web Application enrollment forms from the Texas Department of State Health Services.
Newborn Hearing Screening
Implement best practices that can be used in the primary care setting to manage parent anxiety about out-of-range newborn hearing results and to encourage follow-up care.
Implement best practices for collecting and handling specimens in a clinical setting as well as requirements for submitting specimens to the Texas Department of State Health Services.
Developmental Surveillance and Screening: Birth through 6 Years
Integrate validated developmental screenings and ongoing surveillance to meet Texas Health Steps requirements for preventive medical checkups.
Case Management Services in Texas
Integrate case management services to support patients and families dealing with special health-care needs or chronic conditions. Includes information about eligibility for Case Management for Children and Pregnant Women.
* Required course for MCO service coordinators. A certificate will be provided upon course completion.
Texas Health Steps Guidance
Texas Health Steps Guidance
Anticipatory guidance—age-appropriate education and counseling—is a required component of every Texas Health Steps preventive medical and dental checkup. Texas Health Steps offers age-appropriate education and counseling topics so providers can assist patients, families, and caregivers to understand growth, development, and healthy practices. Texas Health Steps recommends that health-care providers personalize anticipatory guidance depending on the needs of their patients. Anticipatory guidance topics should be individualized and prioritized based on questions and concerns of the child or adolescent and their parent or guardian. Specific guidance should also be based on findings obtained during the health history and physical exam.
Texas Health Steps offers Anticipatory Guidance-A Guide for Providers, which includes guidance topics for every age group birth through 20 years. It mirrors anticipatory guidance topics included on the Texas Health Steps Child Health Clinical Record Forms.
Families and caregivers of children with chronic medical conditions face complex challenges and extended stress. Providing long-term care for a child with a disability or chronic illness can take a physical, emotional, and financial toll. It also requires a time commitment that can be difficult to achieve.
As a pediatric health-care provider, you “have a responsibility to recognize caregiver burden (Adelman, Tmanova, Delgado, Dion & Lachs, 2014). Research has shown that caregivers are at increased risk for depression, anxiety, and other negative health effects of what can be a crushing responsibility. At each pediatric checkup, make it part of your routine to inquire whether family or caregivers have questions or concerns about their roles, their own health, or navigating the health-care system.
The health of your young patients and the health of their caregivers are interwoven.
Caregivers who feel overwhelmed may not be able to provide appropriate care for a child in need. You must be alert to outcries for help or signs of health problems related to caregiving, including loss of sleep and diet imbalance. Open communication allows you to be a sounding board for caregivers who are struggling with their duties. At the same time, be on the watch for signs of fatigue or stress in caregivers who try to project an “all’s well” attitude even when they are having problems.
Your role includes providing practical counseling about stress and offering resources designed to help families and caregivers cope.
Top 10 Caregiver Coping Skills
Sharing this Top Ten list of coping skills can help caregivers learn strategies that may reduce stress:
- Understand your feelings.
- Express your emotions.
- Educate yourself about your child’s illness or condition.
- Keep communications open.
- Talk to other parents.
- Focus on the strengths and goals that are achievable.
- Believe in your child.
- Establish routines.
- Maintain your sense of humor! There is no co-pay for laughter!!
- Remember that taking care of yourself is caring for your family.
Source: Parent to Parent of New York State
Resources to share with families and caregivers
Aging and Disability Resource Centers (ADRCs) operated by Texas Health and Human Services (Texas HHS). The centers are welcoming and offer information about state and federal health benefits as well as local programs and services. The trained staff can connect caregivers with services such as home care, meals, transportation, legal help, attendant care, respite support, and housing. Visit the ADRC website for a list of resource center locations in Texas.
Family Support Services, a program to help families care for children with special health-care needs at home. Services are provided by the Children with Special Health Care Needs (CSHCN) Services Program, a branch of the Texas Department of State Health Services.
Navigate Life Texas, a multilingual website created by parents for parents of children with disabilities and special health-care needs. This unique site offers comprehensive, relevant, and reliable information for families, professionals, advocates, and anyone working with children who have disabilities and their families. Sponsored by the Texas Interagency Task Force on Children with Special Needs.
Take Time Texas, a website offered by Texas HHS that includes a state inventory of respite services.
Texas Parent to Parent offers peer support for parents of children with special health-care needs.
All Medicaid managed care organizations (MCOs) provide case management services (called service management for STAR members with special health-care needs). In the other Medicaid managed care programs, everyone gets some level of case management. Patients should first be referred to the plan’s service coordinator and then referred to Case Management for Children and Pregnant Women if patient needs cannot be met by the plan’s services. Health plans are also required to make appropriate referrals to case management services.
For patients enrolled in STAR Medicaid, STAR Health, or Fee-For-Service (FFS) Medicaid, providers can make a referral by one of these methods:
- Calling 877-847-8377 (877-THSteps).
- Contacting a case manager (“Find a Case Manager” web page accessed from the Resources for this module).
- Submitting the Case Management Referral Form (the form is also accessed from Resources).
For patients enrolled in STAR Kids:
- Health Plan service coordinators and others can refer by submitting the STAR Kids Case Management Request Form (the form is also accessed from Resources).
Early Childhood Intervention (ECI) is a statewide program for families with children birth through 35 months who have disabilities and developmental delays. All health-care providers are required by federal and state regulations to refer children 35 months and younger to the local ECI program as soon as possible but no later than seven days after the suspicion or identification of a developmental delay.
To qualify for ECI services, a child must have:
- A qualifying medically diagnosed condition that has a high probability of resulting in a developmental delay. For more information, visit the ECI Qualifying Diagnosis Search web page.
- An auditory or visual impairment as defined by the Texas Education Agency (TEA) rule at 10 TAC Section 89.1040.
- A documented delay of at least 25 percent in one or more of the following areas of skills and development: gross motor, communication, cognition, fine motor, social, emotional, or self-help. Or, a documented delay of at least 33 percent when the delay occurs only in expressive language.
- A qualitative determination of delay, as indicated by responses or patterns that are disordered or qualitatively different from what is expected for the child’s age.
To refer a child, providers should use the ECI Provider Referral and Feedback form. The form, which requires a parent or guardian signature, helps ensure that ECI’s evaluation results and service plan are shared with the referring provider.
To refer families for services, providers can call the local ECI program.
Texas Health Steps requires that all federal- and state-mandated checkup components be documented in the medical record in order for the checkup to be considered complete and to qualify for provider reimbursement. Any checkup component that is not completed must be noted in the medical record, along with the reason it was not completed and a plan to complete it. The medical record must also contain documentation of all screening tools used, screening results, and referrals. Texas Health Steps child health clinical record forms are optional but are recommended to assist providers with documentation of all required checkup components. Providers should be aware that Texas Health Steps checkups are subject to retrospective review and recoupment if the medical record does not include all required documentation.
A medical home is the patient’s primary point of contact when accessing health care. The medical home concept was developed by the American Academy of Pediatrics (AAP) and is promoted by Texas Health Steps. A medical home is defined as one in which care is accessible, family-centered, continuous, comprehensive, compassionate, coordinated, and culturally effective. It is a partnership between a child, the family or caregiver, and the child’s primary health-care setting. The primary health-care setting can be a physician’s office, a hospital outpatient clinic, a school health center, a community health center, or a health department clinic.
Providers who need assistance finding a specialist or subspecialist who accepts patients enrolled in Medicaid can find a specialist or subspecialist by using the Texas Medicaid & Healthcare Partnership (TMHP) Online Provider Lookup or by calling the Texas Health Steps toll-free help line for providers at 800-964-2777 Monday through Friday from 8 a.m. to 6 p.m. Central Time. Select option 3 to speak with a representative.
Providers can access a set of child health clinical record forms to document Texas Health Steps preventive medical checkups. The set includes a form for each checkup under the Texas Health Steps Periodicity Schedule, for patients from up to 5 days old through 20 years. Providers can save or print the forms.
Each form includes the required components for that age’s checkup, along with space for documenting routine, non-required components of a medical checkup. The backside of the form includes a helpful list of suggested anticipatory guidance topics and checklists such as the Hearing Checklist for Parents and Lead Risk Factors.
Texas Health Steps is the preventive care services program for children birth through 20 years who are enrolled in Medicaid. Texas Health Steps provides regular checkups and screenings as part of the Early and Periodic Screening, Diagnosis, and Treatment program, also known as EPSDT.
In Texas, EPSDT is known as Texas Health Steps, which includes the preventive care components—or Early and Periodic Screening (EPS)—of the total EPSDT service. Required medical checkups and preventive care services are provided in accordance with the latest Texas Health Steps Periodicity Schedule, which is modeled after the one developed by the American Academy of Pediatrics (AAP). Additional checkup components are required in Texas to meet federal and state guidelines, and checkups are encouraged as part of the medical home. The Periodicity Schedule specifies when each of the checkup components is due. Providers should always refer to the latest schedule available. To download a PDF of the Periodicity Schedule online, visit the Texas Health Steps Provider Information web page.
The Texas Medicaid & Healthcare Partnership (TMHP) updates the TMPPM monthly. The policy updates are published on the TMHP website and in banner messages, which appear weekly on a provider’s Remittance and Status Report as well as on the website. Providers can find updates on the web page in two ways:
Release Notes—Changes to the TMPPM arranged by date, with most recent at the top of the list.
Change History—Changes to the TMPPM arranged by chapter. (If a chapter has not changed, it will not appear on the list).
NOTE: Providers should always check the TMHP website for the current TMPPM, banner messages, and policy and procedures updates. Archived versions of the TMPPM will remain online for reference purposes.