Fragile X Syndrome

Fragile X Syndrome

Fragile X syndrome is a genetic condition that causes intellectual and behavioral changes. This condition is the most diagnosed genetic cause for intellectual disability; second only to Downs Syndrome.

fragile x syndrome

In the 1970s, the genetic abnormalities associated with the fragility of a segment of the X chromosome were identified, which led to the discovery of the condition called fragile X syndrome. But it was not until the 1990s that the cause of this fragility was discovered a mutation in the FMR1 gene. Once this gene is altered, it no longer passes instructions for the production of a protein essential for the nervous system.

The lack of this protein leads to a significant change in intellectual ability and behavior. These symptoms, however, are quite common in many other conditions, which is why the diagnosis of fragile X syndrome does not always occur quickly.

Current studies show that the disease affects one in 4,000 boys and one in 6,000 girls. The lower frequency in females is due to the fact that the females have two X chromosomes, which protect her from developing fragile X syndrome.

Fragile X syndrome

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Causes and symptoms of fragile X syndrome

With the exception of muscle flaccidity, which may be present at birth, signs only appear over time. Fragile X syndrome results from a mutation in a certain region of the FMR1 gene, which is located on the X chromosome. This change is very peculiar and is characterized by an increase in the number of CGG repeats, which are components of the cytosine guanine of DNA.

Fragile X syndrome

Such an increase causes the gene to be silenced and the resulting protein to be encoded. In normal development, there are 6 to 50 copies of the CGG crack in that part of the FMR1 gene. In fragile X syndrome, there are more than 200 repetitions of the same sequence. There is, however, an intermediate condition that involves pre-mutation, which comprises individuals who have 50 to 200 CGG copies. In this range, people usually do not manifest cognitive or behavioral problems. But, they can transmit the syndrome to their descendants, causing the complete expression of the disease, with more marked symptoms in males and reduced syndromes in females.

Tests and diagnostics

Because the symptoms resemble those of other disorders involving intellectual development, the diagnosis of fragile X syndrome requires a molecular test – DNA analysis – to confirm. Using a blood sample, the test can detect both mutation and pre-mutation in the FMR1 gene by determining the number of copies of the CGG sequence in this part of DNA.

Treatments and preventions

There are no ways to prevent X chromosome failure and the resulting mutation of the FMR1 gene. However, because it is a disease with a peculiar pattern of inheritance, it is possible to identify relatively easily those carriers of the pre-mutation, who may have descendants with the disease.

Thus, especially for couples with a family history of cognitive and/or behavior disorders involving delayed intellectual development, it may be beneficial to investigate this condition and, if necessary, to receive genetic counseling.


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External Resources

Genetics Home Reference – NIH

Support program: Autism Sibling Support Initiative

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Maryland Developmental Disabilities Council

Maryland Early Intervention and Special Education Services

Pathfinders for Autism

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Maryland Preschool Special Education

Maryland Department of Education Division of Early Childhood

Disability Employment: Employment 1st Maryland UPDATE

Disability Employment: Employment 1st Maryland UPDATE

Disability Employment: Employment 1st Maryland UPDATE

From the Maryland Developmental Disabilities Administration: Back in June of this year, DDA regional office staff began on-site validation of non-residential site self-assessments that were completed by all DDA providers back in late 2016. Non-residential sites visited have included both Day Habilitation and Vocational. Surveyors used a non-residential site validation tool that closely followed information asked in the original self-assessments.
The non-residential site validation tools were designed to determine whether a particular licensed site is currently in compliance with the Centers for Medicare and Medicaid Services (CMS) final rule, and to provide potential recommendations on what action items a provider needs to take in order to be compliant. This rule was issued to ensure that Medicaid’s Home and Community-Based Services (HCBS) provide full access to the benefits of community living and offer services in the most integrated settings.
The DDA must complete approximately 400 non-residential site visits. To date, regional offices have completed most of these visits. The number of non-residential site visits that still need to occur, have been broken down by regions:
·        Southern Region: Two
·       Western Region: Eight
·       Eastern Shore Region: All site visits have been completed
·       Central Region: Forty-nine
As new or existing providers apply to open new site-based services (Day Habilitation or Career Exploration: Facility-Based), DDA will use the same tool to determine compliance, prior to approval. This also holds true for existing providers wishing to provide site-based services under the new Community-Supports Waiver.
Once a visit has been completed, providers will receive a copy of the validation tool, along with a letter outlining compliance or non-compliance. If a site is currently found not in compliance, the letter will include recommendations, as well as further guidance if needed. The DDA will continue to work with providers to identify appropriate technical assistance and resources in order to comply with the final rule by 2021.
The next phase of site validations will begin in November, as DDA regional staff begin residential site validation. A formal memo outlining the process, as well as guidance, will go out to providers and stakeholders in the coming weeks.

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NEXT  STEPS…

Share your story with the community. Click here to contact us about doing a SETH TALK.

Interested in becoming a guest writer for Seth’s Mom. Click here to contact us.

 


External Resources

Maryland Developmental Disabilities Administration

Administration for Community Living

Pathfinders for Autism

Disability Scoop

Depression and Bipolar Support Alliance

National Center for PTSD

The beneficent disability support team member. Can being kind negatively impact quality? YES!

The beneficent disability support team member. Can being kind negatively impact quality? YES!

Beneficence defined

Merriam-Webster defines beneficence as the quality or state of doing or producing good. Service providers and parents who care about their job, and the individuals they serve, want to do good. They want to see them happy. They want to see them healthy. Besides, doing good feels good. Doing good can give any task a sense of purpose. Doing good can leave a person thinking, KNOWING, what they’ve done can improve the life of someone who may not be able to care for themselves. Many dedicated disability support team members can share  stories about moments where a smile, a hug, or a thank you has made their work worthwhile. These are the positives of beneficent acts.

Approaching support tasks with the intent of doing no harm is ingrained in medical culture. But what about support teams?How can attempts to do good impact service quality? We’ll take a look at how beneficence, doing good, can affect service quality.

The negative impact of beneficence on disability support quality

Disability support team members are expected to work together to provide good, quality services. Think about that concept. Think about the complexity of such an approach. A typical IEP team consists of many specialties ranging from speech therapy to psychology. All of these wonderful individuals want to do “good” for the child. But, each specialty is trained in a different way using different jargon with different criteria for meeting a milestone or outcome. If they all have a different perspective and language, it’s likely to result in a beneficence salad. Each member of the IEP team can develop their own sense of what is good for the child. On the surface, this may not seem like a big deal but think about what could result when you have 5-6 people with 5-6 versions of what’s in the best interest for one person. They may not consider how their approach or goals compliment, or negatively impact, other IEP service areas. This could result in conflicts that may treat the individual symptom but not holistically treat a complex condition like autism. Rather, it’s like treating a broken arm, cracked rib, and sprained neck from a fall but never fixing the step that caused the person to fall down the stairs in the first place.

Using ethos to turn beneficence into a positive for disability support teams

We touched on the ethos topic in a previous article about staff assaults in a psychiatric hospital. As we discussed in the article

When there is a lack of leadership and diminished corporate ethos (e.g. staff consensus on how to approach care plan goals) each staff develops their own sense of beneficence. Meaning, each individual staff member acts according to what they feel is in the best interest of the person receiving supports. This leads to a lack of cohesion between team members (e.g. administration, psychiatrist, behavior analyst, direct care staff, etc.).

By bringing the disability support team members together with a single approach to the care plan and goal setting, you also create a common sense of what is good. You create a common sense of what it means to be beneficent.

 


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Parent’s rights and the IEP process in Maryland

Dyslexia defined

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Disability Employment: Employment 1st Maryland UPDATE

ActuallyAutistic. From people first language to self identifying language.

 


NEXT  STEPS…

Share your story with the community. Click here to contact us about doing a SETH TALK.

Interested in becoming a guest writer for Seth’s Mom. Click here to contact us.

 


External Resources

Administration for Community Living

Pathfinders for Autism

Disability Scoop

Depression and Bipolar Support Alliance

National Center for PTSD

 

Where is Seth’s Mom? Gateway to Success Learning Center

Where is Seth’s Mom? Gateway to Success Learning Center

Where is Seth’s Mom? Gateway to Success Learning Center

In December 2017, Doc Mo and Seth held a meet and greet with Seth’s Mom and the Gateway to Success Learning Center parents. It was a huge hit! The director, Ms. Tiara Montgomery, asked us to come back and speak with her staff. A special thank you to Ms. Cookie for being so engaged and charming.

It was an incredible experience. Staff shared stories about their struggle with receiving the proper special education training and providing accommodations to special needs children. One of the most interesting topics was how difficult it is for them to provide services when they’re not aware of a child’s diagnosis. This lead to a very in-depth discussion about the stigma associated with having a diagnosis and the rampant discrimination many parents experience when daycare staff find out about a child’s diagnosis. It was refreshing to hear such candid conversation from staff who are genuinely interested in being there for every child, whether they are disabled or non-disabled.

We will certainly visit with the wonderful staff and parents of Gateway again. We wants to continue the dialogue. We want to continue building bridges between service providers, parents, and service recipients so we can all better understand the other’s needs. As we’ve said before, it takes a village. And we shouldn’t judge. All the members of that village should work to find ways to support each other.

 


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NEXT  STEPS…

Share your story with the community. Click here to contact us about doing a SETH TALK.

Interested in becoming a guest writer for Seth’s Mom. Click here to contact us.

 


External Resources

Administration for Community Living

Pathfinders for Autism

Disability Scoop

Depression and Bipolar Support Alliance

National Center for PTSD

 

 

 

 

What is tardive dyskinesia?

What is tardive dyskinesia?

What is tardive dyskinesia?

The long-term use of anti-psychotic medication can be beneficial and lead to positive outcomes in the life of individuals diagnosed with a mental illness. However, there can be a severe side-effect called tardive dyskinesia. We encourage consulting your physician to learn more about the side-effects of long-term use of anti-psychotics. Know the risks and all your options, especially before treating your children.

From Depression and Bipolar Support Alliance:

Tardive dyskinesia (TD) can be a debilitating condition that is thought to impact at least 500,000 people in the US. Characterized by repetitive, involuntary movements such as tongue thrusting, lip smacking or rocking of the hips, TD is often caused by long-term use of anti-psychotic medications, which are sometimes used to treat bipolar disorder and depression. This condition is little understood and is often missed by mental health care providers, as well as by the people experiencing the symptoms themselves.

The symptoms of this condition can lead to social isolation, the inability to do daily tasks and, in some cases, even to an inability to work. While the condition can sometimes be reversed, or have symptoms reduced, by a change in medication type or dose, the symptoms can persist indefinitely—even after terminating the use of the medication that caused the TD.

To read the full article click here.

 


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You have depression. So what. We all get depressed sometimes.

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ActuallyAutistic. From people first language to self identifying language.

Seth’s Mom Disability News and Entertainment Network Page

Disabilities support jargon. What’s LISS?

PTSD signs and symptoms

Disability Support: Mastering the art of sharing power.

 


NEXT  STEPS…

Share your story with the community. Click here to contact us about doing a SETH TALK.

Interested in becoming a guest writer for Seth’s Mom. Click here to contact us.

 


External Resources

Support program: Autism Sibling Support Initiative

Support program: Sibling Support Project

Maryland Developmental Disabilities Council

Maryland Early Intervention and Special Education Services

Administration for Community Living

Pathfinders for Autism

Disability Scoop

Depression and Bipolar Support Alliance

National Center for PTSD

The Blue Ribbon Project: supporting victims of child abuse and youth in foster care

Faces of PTSD