An Overview of Ohtahara Syndrome

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.

With knowledge comes hope: Diagnosing and treating LGS

When Lili was six months old, her parents John and Natalie noticed something odd. As they approached their daughter’s crib, Lili would have a spasm. At first they wondered if she had been frightened. But when the spasms didn’t stop, their intuition kicked in — they knew something was wrong. They called Lili’s pediatrician, describing her responses as “seizure like.” This ultimately led to a diagnosis of infantile spasms that required hospitalisation to treat.

Over the next several months, Lili’s spasms became full-blown seizures. Her parents found themselves tirelessly counting the seizures, losing track of the number and type. Overwhelmed and desperate for answers, they began researching online, eventually finding a source noting that infantile spasms could potentially lead to Lennox-Gastaut syndrome (LGS). It was the first time they’d heard of the disease, and they wondered if it might be the root of Lili’s problem.

LGS is a rare form of epilepsy that affects roughly 48,000 children and adults in the U.S.[1] It is one of the most difficult-to-treat forms of epilepsy in part because symptoms can evolve over time, masking the signs needed to confirm a diagnosis. Children often experience behavioral issues, such as irritability, an inability to solve problems and attention-seeking behavior. Up to nearly two-thirds of young children with LGS may also show signs of developmental delay before the first onset of seizures.

Typically, doctors look for three signs to confirm a diagnosis: multiple types of seizures (which can include tonic, atonic or drop), developmental delays and abnormal results from an EEG — a test that assesses brainwave patterns.

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Research offers new hope for people affected by the microdeletion of chromosome 22

Published by: New Medical Life Sciences

One person in 2000 suffers from a microdeletion of chromosome 22 that can lead to the development of psychotic disorders, such as schizophrenia, in adolescence. In addition to symptoms such as hallucinations or delusions, psychotic disorders also comes with a progressive decline in intelligence quotient (IQ). If current drug treatments are successful in containing psychotic symptoms, nothing can be done to prevent the deterioration of intellectual skills that leads to loss of autonomy.

Researchers at the University of Geneva (UNIGE), Switzerland, have discovered that prescription of selective serotonin reuptake inhibitors (SSRIs) – a class of drugs used to treat anxiety and depression -in late childhood can reduce the deterioration of intellectual abilities, and have a neuroprotective effect on some of the brain regions affected by the psychotic illness. This study, to be read in the journal Translational Psychiatry, opens up a new field of research and new hope for people affected by the microdeletion of chromosome 22.

The average IQ is around 100 points. However, for people who may develop a psychotic illness, such as those with a microdeletion of chromosome 22, the average drops to 70-80 points. “The problem is that when a psychotic disorder occurs, such as schizophrenia, the brain frontal lobe and the hippocampus are particularly affected, which leads to the gradual deterioration of already below-average intellectual capacities”, explains Valentina Mancini, a researcher in the Department of Psychiatry at UNIGE Faculty of Medicine and first author of the study. From then on, the average IQ drops to around 65-70 points, leading to a loss of autonomy that requires a protected environment. “At present, drug treatments manage to contain psychotic symptoms, such as hallucinations, anxiety or distortion of reality, but there is no treatment that can reduce the deterioration of affected people’s intellectual capacities”, notes the Geneva researcher. Click here to read the rest of the story.

What to Know About Dyslexia and ADHD

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

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.