Category Archives: Uncategorized

An Overview of Ohtahara Syndrome

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Published by: VeryWell Health
Written by: Heidi Moawad

Ohtahara syndrome is a rare type of epilepsy that begins during infancy. It is also called early infantile epileptic encephalopathy. Children who have Ohtahara syndrome experience seizures and have severe developmental problems. This type of epilepsy is associated with a characteristic pattern that can be recognized on an electroencephalogram (EEG). Anti epilepsy drugs (AEDs) are usually needed to help manage the seizures.  This condition is not curable, and children who have Ohtahara syndrome are not usually expected to survive beyond early childhood. There are exceptions, and some people with this syndrome may continue to live into adulthood, but they tend to have persistent epilepsy and physical and cognitive deficits.

Symptoms

Children who have Ohtahara syndrome experience their earliest seizures before the age of 3 months. They may seem healthy at birth, but can start to have jerking movements within a few weeks. In some cases, mothers may recall that their baby actually started having erratic movements during the pregnancy.

Babies who have Ohtahara syndrome may experience several types of seizures. The most common seizure types in Ohtahara syndrome include:

Tonic seizures: This is the most common type of seizure that occurs in Ohtahara syndrome. It is characterized by a stiffening of the arms and legs, usually lasting a few seconds. Click here to read the rest of the story.

What to Know About Dyslexia and ADHD

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Published by: Psych Central
Written by: Gia Miller

They have some shared symptoms, but dyslexia and ADHD are separate conditions. Here’s how to to tell them apart and tips for managing these conditions.

Dyslexia and attention deficit hyperactivity disorder (ADHD) are two neurological conditions that can make learning more difficult.

The former affects 11%, and the latter affects between 5 to 20%, but it’s difficult to estimate precisely.

Sometimes, the symptoms of ADHD and dyslexia can be hard to tell apart — as both can cause trouble with reading and writing. But even though the symptoms can appear similar, the underlying reasons for the symptoms are very different.

What is dyslexia?

Dyslexia is a condition that impacts your ability to use language. You may have trouble matching letters to sounds or recognizing the sounds in words. This can make it hard to read and understand what you’re reading.

Dyslexia can also make spelling, writing, or math more difficult. Click here to read the story

When Rett Symptoms Change

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Published by: Rett Syndrome News
Written by: Jackie Babiarz

My 12-year-old daughter, Cammy, has Rett syndrome. Some days, Rett syndrome has Cammy.

During the early-onset stage, which typically occurs between 6 and 18 months of age, children may experience abnormal hand movements, difficulty sitting independently, and speech or language problems. Cammy was no different.

Repetitive hand movement is a hallmark sign of Rett, and Cammy had been hand mouthing from 12 months on. Her left hand was constantly in her mouth, causing sores. Other kids with Rett may wring their hands or pull out their hair. At 18 months, it was this behavior that tipped off Cammy’s physiatrist to the fact that she had Rett syndrome. Shortly after Cammy was diagnosed, her sister, Ryan, was born. Their two-year age gap began closing within a couple months when Ryan showed evidence of already being stronger than Cammy. Click here to read the rest of the story.

5 common learning disabilities

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Published by: Washington Times Herald
Written by: Metro Creative Connection

Students are often told that hard work is the path to success. Individuals who have learning disabilities may have to work even harder than their peers to be successful.

The Learning Disabilities Association of America says learning disabilities occur due to neurobiological and/or genetic factors that alter the way the brain functions. This can affect one or more cognitive processes related to learning and interfere with various skills, potentially preventing a person from acquiring the same amount of knowledge as others of the same age.

There are many learning disabilities, and the following are five of the most common, according to LD Resources Foundation, Inc., a nonprofit organization that helps find solutions to those who are affected by learning disabilities.

1. Dyslexia: This learning disability can impede a person’s ability to read and comprehend text. Students may have trouble with phonemic awareness, or the way to break down words. Similar problems with phonological processing, or distinguishing between similar word sounds, can occur as well.

2. ADHD: Attention deficit/hyperactivity disorder is marked by behaviors that make it difficult to pay attention and stay on task. The Masters in Special Education, a resource for finding work and study in special education concentrations, says there is debate over whether ADHD is a learning disability. But there is no denying that ADHD can impede success in school settings.

Click here to read the rest of the story

Fetal Alcohol Syndrome is preventable

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Published by: Daily News
Written by: Kevin Green

FASD (Fetal Alcohol Syndrome Disorder) is a condition that results from alcohol exposure during the mother’s pregnancy. FASD causes brain damage and growth problems. The problems vary from child to child, but defects are not reversible.

The fetus can be affected regardless of the amount or frequency of alcohol consumed by the mother. Each year 630,000 babies with FASD are born globally. The average life expectancy of people with FASD is 34 years of age, with extreme causes accounting for 44% of all deaths. Not only will alcohol lead to various physical defects including brain malformation, but mental issues and neurological problems. FASD is 100% preventable.

Disabilities can vary from abnormal appearance, shorter height, hyperactivity, learning disabilities, poor judgment skills, vision and hearing problems, and problems with the heart, kidneys, and bones.

Distinctive facial features include small eyes, an exceptionally small upper lip, a short upturned nose, and a smooth skin surface between the nose and upper lip.

Drinking alcohol during pregnancy allows alcohol to enter the bloodstream and reaches the developing fetus by crossing the placenta. Alcohol causes higher blood alcohol concentrations in your developing baby than in the mother’s body because the fetus metabolizes the alcohol slower than an adult does. Alcohol interferes with the delivery of oxygen and optimum nutrition to your developing baby.

Exposure to alcohol before birth can harm the development of tissues and organs, causing permanent brain damage in your baby. Click here to read the rest of the story

How ADHD May Affect Reading

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Published by: Psych Central
Written by: Morgan Mandriota

Many people enjoy cuddling up on the couch with a book as a way to wind down. But people with attention deficit hyperactivity disorder (ADHD), especially children, might find reading much more frustrating than relaxing.

This is because those with ADHD tend to experience reading problems.

ADHD is a common neurodevelopmental disorder that impacts children and adults differently, but many people report reading difficulties with ADHD.

So how does ADHD affect reading comprehension? It can be challenging for many reasons, including difficulty with:

  • focusing
  • memory and retention
  • processing information
  • sitting still
  • managing time
  • managing distractions (e.g., distracting thoughts or stimuli in the environment)

“Given difficulties with sustained attention, reading can be particularly difficult as kids often report rereading passages over and over again given lack of focus and being easily distracted,” says Angelique Snyder, Psy.D., a pediatric psychologist at the Children’s Hospital of San Antonio.

“Their inability to focus and concentrate may make it harder for them to visually track information and retain what they just read, so both their reading speed and comprehension can suffer,” adds Dr. Judy Ho, board certified clinical neuropsychologist and a psychology professor at Pepperdine University.

A 2019 study suggests that reading disabilities and ADHD typically co-occur. Snyder notes that kids with ADHD also tend to have comorbid learning disorders, which can affect reading. Click here for the rest of the story.

Treating ‘Fragile X Syndrome’ autism symptoms

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Published by: ABC News

Holly is her mom’s little princess. But this girl’s fairy tale started with a scare. While pregnant with Holly, Vicki Davis found out she was a carrier of Fragile X Syndrome.

“I had never heard of it. I had no clue what it was,” said Vicki.

It’s a mutation of a gene on the X chromosome that leads to a lack of protein production, critical for development. It’s one of the most common causes of mental retardation.

“Thirty percent of individuals with Fragile X Syndrome have full autism. Another 30 percent have an autism spectrum disorder,” said Dr. Randi Hagerman, UC Davis MIND Institute.

Hagerman says she first met Holly when the girl was just a few months old. The infant’s Fragile X Syndrome was subtle.

But, “She was extremely delayed,” said Hagerman.

As part of a clinical trial, Holly started taking a serotonin medication. Then, minocycline, a common antibiotic normally used to treat acne, was added to her regimen.

“Her developmental testing just improved remarkably,” said Hagerman.

Holly didn’t start talking until she was 2 and a half years old. Vicki says additional minocycline treatments around that time helped her catch up to other kids, and even excel. At just 4 she started reading.

“The medication really helped her create some of those pathways that taught her how to learn,” said Vicki. Hagerman hopes the treatments that helped Holly could do the same for kids with autism. And that could mean a lot more children living happier and healthier lives.

The drugs Holly was treated with have a few side effects, mostly involving the stomach. Hagerman says the drug treatment can be used in older kids with Fragile X Syndrome. However, the results might not be as dramatic. The UC Davis MIND Institute is currently testing other drugs to improve the symptoms of Fragile X for patients up to 25 years old.  Click here to read the rest of the story.

WHAT IS CDKL5 DEFICIENCY DISORDER?

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Published by: International Foundation for CDKL5 Research

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:40,000 -75,000 live births, making it one of the most common forms of genetic epilepsy.

The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

CDKL5 was first identified in 2004, it stands for cyclin-dependent kinase-like 5, and its location is on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s, and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene, which describes what it does. The CDKL5 gene was previously called STK9. Many cases have been identified in boys, but because of the location of the gene, CDD mainly affects girls.

We do not fully know the cause of CDKL5 deficiency disorder at this time. Mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, cerebral palsy, autism, and intractable epilepsy of unknown origin.

Through scientific research and collecting information through the CDKL5 International Database and at our Centers of Excellence, we are working hard to find all of the pieces of this puzzle. It is important to note that scientists and doctors do not know the full spectrum of CDKL5 disorders at this time. There are likely many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder as we continue the search for a desperately needed cure. Click here to read the rest of the story.

WHAT ARE THE EHLERS-DANLOS SYNDROMES?

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Published by: The Ehlers-Danlos Society

The Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue that are varied in the ways they affect the body and in their genetic causes. The underlying concern is the abnormal structure or function of collagen and certain allied connective tissue proteins.  

They are generally characterized by joint hypermobility (joints that move further than normal range), joint instability (subluxation (partial separation of the articulating surfaces of a joint)) and dislocations (full separation of the surfaces of a joint), scoliosis, and other joint deformities, skin hyperextensibility (skin that can be stretched further than normal) and abnormal scarring, and other structural weakness such as hernias and organ prolapse through the pelvic floor. In the rarer types of EDS, there is also weakness of specific tissues that can lead, for example, to major gum and dental disease, eye disease, cardiac valve and aortic root disorders, and life-threatening abdominal organ, uterine, or blood vessel rupture. 

The Ehlers-Danlos syndromes are currently classified into thirteen subtypes. In all but the hypermobile subtype (hEDS) genetics variants have been identified as the cause for the disorder and are part of the diagnostic criteria. Since the publication of the 2017 criteria for EDS a couple of other genes have been identified describing additional new subtypes. In particular, these include AEBP1-related EDS, and a COL1A1/A2 gene variant causing an overlap between EDS and Osteogenesis Imperfecta. 

Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms can be matched up to the major and minor criteria to identify the subtype that is the most complete fit. That said, there can be substantial overlap between the EDS subtypes. 

Sometimes a “provisional clinical diagnosis” of an EDS subtype is made. This can occur when a person meets a minimal clinical requirement but has no access to molecular confirmation or whose genetic testing shows one or more gene variants of uncertain significance. These individuals should be followed clinically, and alternative diagnoses and expanded molecular testing, skin histology (microscope examination of a skin biopsy), and testing of possibly affected family members should be considered. 

Please remember that an individual’s experience with EDS is their own and may not necessarily be the same as another person’s experience. Diagnostic criteria are meant. Click here to read the rest of the story

Is Williams Syndrome the Same as Down Syndrome?

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Published by: Medicinet.com

What is Williams syndrome?

Williams syndrome is a genetic disorder that affects approximately one in 25,000 births. The syndrome is named for Dr. J.C.P. Williams, who first diagnosed the condition. He saw a pattern in children at his hospital receiving treatment for cardiovascular problems. These children shared traits like similar facial features and an unusually friendly and outgoing demeanor.

Williams syndrome is also called:

  • Beuren Syndrome
  • Early Hypercalcemia Syndrome with Elfin Facies
  • Elfin Facies with Hypercalcemia
    • Hypercalcemia-Supravalvar Aortic Stenosis
    • WBS
    • Williams-Beuren Syndrome
    • WMS

    What is down syndrome?

    Of all chromosomal conditions, Down syndrome is the most common with one in 700 babies diagnosed with Down syndrome. Most people are born with

    46 chromosomes, but those with Down syndrome have an extra copy of chromosome 2.

    While the physical features and behaviors are very similar, there are three different types of Down syndrome: Click here to read the rest of the story.