Posts Tagged ‘intellectual disabilities’

New research identifies some causes of developmental delays

Wednesday, June 1st, 2016

Through DNA sequencing, a new study has uncovered genetic causes for certain developmental delays. Finding the underlying reason for these delays then allowed treatments to be specifically targeted to 44% of the affected individuals.

Many children, especially those born prematurely, often have delays in their development. They may not walk, talk or reach milestones during the time frames that are typical for children in their age group. Others suffer from intellectual disabilities. These lags are collectively referred to as developmental delays.

In many cases, the underlying cause of a developmental delay is not known. But, there are 90 types of inborn errors of metabolism  (inherited disorders where the body cannot properly turn food into energy) associated with intellectual disabilities, which are treatable. In this study published in the New England Journal of Medicine, researchers from the University of British Columbia in Canada sought to see if other metabolic disorders might be discovered.

First, the researchers identified individuals with developmental delays and intellectual disabilites that were caused by metabolic problems. They then screened for and ruled out the 90 metabolic diseases known to cause intellectual delays, and tested the DNA of the remaining participants.

The results? Seventeen of the 41 individuals were diagnosed with conditions which enabled them to receive a targeted change in their treatment options. Treatments included specific diets, medications or supplements. In a few of the study participants, the results of the new treatments were substantial – – improving attention, communication and seizure control.

March of Dimes Chief Medical Office Dr. Edward McCabe commented “there are a number of specialized centers taking a DNA sequencing approach to identify the causes of diseases in patients where the cause had remained unknown. Clinicians are learning who has the expertise.”

The bottom line

As DNA sequencing becomes more accessible, it is hoped that children with developmental delays, and especially intellectual disabilities, will be able to receive targeted interventions earlier, which in some cases can dramatically change the course of their condition.

“This is the way medicine will be practiced and it’s important for us to recognize there are a lot of genes for which we haven’t identified a disease association,” adds Dr. McCabe. “Using sequencing, we can get a precise diagnosis on an individual where there was none prior.”

 

See our info on Delays and Disabilities – How to get help for your child.

 

Understanding intellectual and developmental disabilities

Wednesday, March 11th, 2015

Raising a child with developmental disabilities is a long road filled with challenges. It is best to have information and support to help you along the way.

Since March is National Intellectual and Developmental Disabilities Awareness Month, it gives us an opportunity to increase understanding about these disabilities, and to get the word out on support services that exist to help families. Equally important is learning how some disabilities can be prevented.

Developmental disabilities (DDs) include a wide group of conditions due to an impairment in physical, learning, language, or behavior areas. About one in six children in the U.S. has a developmental disability or a developmental delay.

DDs are diagnosed during the developmental period or before a child reaches age 18, are life-long, and can be mild to severe. They impact a person’s ability to function well every day.

Developmental disabilities is the umbrella term that includes intellectual disabilities (formerly referred to as mental retardation), which is an impairment in intellectual and adaptive functioning. For example, individuals with intellectual disability may have problems with everyday life skills, (such as getting dressed or using a knife and fork), thinking, understanding, reasoning, speaking and the overall ability to learn. See this fact sheet to learn more.

DDs also include: attention deficit hyperactivity disorder, autism, cerebral palsy, Down syndrome, fetal alcohol spectrum disorders, fragile X syndrome, hearing loss, vision impairment, muscular dystrophy, Tourette syndrome, learning disabilities, among other disorders.

Developmental disabilities may be due to:

• Genetic or chromosomal problems
Premature birth
Exposure to alcohol during pregnancy
• Certain infections during pregnancy

However, in many cases, the cause is unknown.

Some disabilities can be prevented

If you are thinking about becoming pregnant, learn how some disabilities and birth defects can be prevented.

Families need support

This blog series offers lots of resources – check out the Table of Contents for a list of what to do if you suspect your child may have a developmental delay or disability.  The series is updated every Wednesday.

You can also join our online community, Share Your Story, where parents of children with developmental delays and disabilities support one another.

In addition, here are a couple more resources:

The Arc: For people with intellectual and developmental disabilities – For more than 60 years, and with nearly 700 chapters in the U.S., the ARC provides supports and services for people with disabilities and for affected families.

AIDD – According to their website, the Administration on Intellectual and Developmental Disabilities works to advance the concerns and interests of individuals with intellectual and developmental disabilities through an array of programs funded under the Developmental Disabilities Act. AIDD is dedicated to ensuring that individuals with developmental disabilities and their families are able to fully participate in and contribute to all aspects of community life in the United States and its territories.

Shaken baby syndrome

Tuesday, June 25th, 2013

Taking care of a fussy baby, or a baby who cries and cannot be consoled, is very, very stressful. Sometimes, usually out of frustration, a caregiver will shake the baby forcefully, in an attempt to make him stop crying. Never shake a baby because his tiny, fragile brain may be damaged.

It takes only a few seconds of shaking to cause irreversible brain damage in an infant. Further damage can occur if the shaking ends with the baby hitting something, like a wall or mattress. When a baby is shaken to the point where his brain is damaged, it is called shaken baby syndrome (SBS) or shaken impact syndrome.

SBS is the leading cause of death in child abuse cases in the United States. The average age of the victims is between 3 and 8 months. In most cases, the person who injures the baby is a young male in his early 20s. He often is the baby’s father or the mother’s boyfriend.

When a baby is shaken forcefully, the brain strikes the inside of the skull. This causes blood vessels and nerves to burst and the brain tissue to tear. Afterwards, the brain swells, causing more pressure and more damage. About half the babies who have SBS die.
Children who survive may suffer:
• Partial or total blindness
• Hearing loss
• Seizures
• Developmental delays
• Learning problems
• Paralysis
• Intellectual disabilities

In mild cases, the baby may appear normal after the shaking. But over time, he may develop one or more of the problems listed above. Often a problem is first noticed when the child goes to school and has trouble learning or behaving.

SBC can be totally prevented, especially when parents recognize when they are frustrated and get help to reduce stress.

If your baby won’t stop crying, our article Crying and Fussiness provides helpful tips.