Searching for genetic links between autism and other disorders – Medical News Today


Research into autism as a symptom of other genetic disorders sheds some light on the molecular mechanisms behind the pervasive and elusive condition.

Source: Searching for genetic links between autism and other disorders – Medical News Today

Sex differences in brain may underlie neurodevelopmental disorders more common in males – Medical News Today


Many early-onset neurodevelopmental disorders, including autism spectrum disorders, are more common in males than females.

Source: Sex differences in brain may underlie neurodevelopmental disorders more common in males – Medical News Today

SPEECH AND LANGUAGE PROBLEMS IN ASD


Original post from Interactive Autism Network

‘……………By Barry Gordon, MD, PhD Professor, Department of Neurology, The Johns Hopkins Medical Institutions, Department of Neurology Cognitive Neurology/Neuropsychology, Baltimore, Maryland, USA

Date Published:
April 2, 2007

A NEUROLOGIST’S PERSECTIVE/A PARENT’S PERSPECTIVE

Problems with speech and language are one of the defining characteristics of the Autism Spectrum Disorders. However, the difficulties that individuals with autism have with speech and language are very heterogenous and probably have a number of different causes or contributing factors, even in the same individual. My colleagues and I have been trying for some time both to investigate the speech and language problems that can occur in autism and to develop possible treatments for them. In addition, I am the father of a nonverbal 14 year old with autism. What follows is a general overview of my perspective on these problems and how they can be assessed and approached for what treatment is possible. Any actual assessment and treatment plan of any particular individual needs to be far more detailed and follow much more detailed logic than this overview allows. However, I am hopeful that it will still be useful for helping parents and teachers interpret what is wrong, what is right, and what can be done to possibly make things better for such individuals.

NORMAL SPEECH AND LANGUAGE

The fullest expression of normal human speech and language requires the desire or intent to communicate something. Also, in its fullest form, it also requires an appreciation of what the other individual understands about a situation and how they are supposed to react to what is being communicated. As the next stage beyond the formulation of an intent or goal in communication, speech and language normally require a mental representation of the message (semantics), next, a representation of the message in terms of words (mentally), and, finally, an articulation of the mental words as physical sounds (articulation of speech). Other ways of expressing mental words are possible, such as gesture (including sign language) or typing. Messages may also have an emotional component that, in English, is signalled by changes in the volume or pitch. Comprehension of speech and language is normally done through sound. This requires paying attention to the sounds, then being able to decipher the sounds in terms of words, then being able to understand the words in terms of intended meanings, and, finally, appreciating the meanings in terms of intentions, actions, or what have you. Vision (perception of gestures and signs or of printed words) and touch (Braille) can also be used as alternative or additional routes into the perception of letters and words.

IMPAIRMENTS IN INDIVIDUALS WITH AUTISM

Individuals with autism can have problems with any or all of these aspects involved in producing or understanding speech and language. In particular, for example, because of their deficits in appreciating social situations, they may not feel any need to communicate and may very well not have any understanding of how other people might respond to a communicated message. Individuals with autism frequently appear to have deficits in paying attention to auditory information. They frequently have to be trained to pay attention to sounds. Even when they are paying attention, many individuals with autism seem to have difficulty in decoding what sounds mean and in matching them to words or thoughts. In some individuals with autism, this may be because they actually have difficulties with words and thoughts themselves. In others, it may be more because of a mapping problem. Individuals with autism frequently have difficulties with articulation, often as part of a broader problem of difficulty with oral-motor functions (movements of the lips and tongue and associated breath control). On the plus side, however, individuals with autism are frequently very good with paying attention and appreciating visual materials. Therefore, the visual route is often one way of getting access to their minds and giving them a way of expressing themselves, in turn.

In any given individual, which particular problems they have and which problems are hampering them most in any particular stage of development can only be determined by a careful assessment. Standardized testing can help to some extent, but it requires careful administration and interpretation, in part, because many standardized tests were not developed with a consideration of the kinds of deficits that individuals with autism may have. Therefore, both the administration and the interpretation of such tests may be problematic because of the unusual pattern of performance. To give just one example, because of their markedly restricted interests, individuals with autism may only rarely show any particular verbal ability and may never show the ability when placed in an unusual testing situation with an unfamiliar examiner. In such a case, the reports of parents and teachers who are more familiar with the child’s capabilities can provide an important clue to what is possible for them and what is not.

In our research and educational program, we try to construct for each child an individualized map of their abilities and disabilities. Is the child aware that he or she is being spoken to? Do they ever try to communicate by any means? Are they echolalic (that is, do they repeat sounds or words spoken to them)? Echolalia, for example, is a clue that the child can perceive speech and articulate speech, so any problems that they may be having with speech and language must be beyond those levels.

TREATMENT

Individuals with autism may have problems impeding their development of speech and language that are well outside the scope of traditional speech and language therapy (such as social deficits) or, at the very least, in the very frontiers of clinical knowledge as to appropriate treatment (developmental articulation disorders). Parents and teachers are confronted by a bewildering range of options and apparent philosophies of treatment of these individuals. However, what really matters most is the empathy, energy, and flexibility of the particular therapist or therapists. In many cases, for example, therapists with seemingly very different philosophies will have surprisingly similar treatment plans because of the realities of the particular individual they deal with.         ……..’

Meeting transportation needs will improve lives of those with ASD, their families


Original post from Medical News Today

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Rutgers study: Integrating access to education, employment, mobility and planning resources will increase independence and opportunities for ASD population.

An integrated approach to providing access to reliable and safe transportation is needed for adults on the autism spectrum and their families, according to a new Rutgers study that offers recommendations for removing barriers to better mobility.

The Rutgers report addresses transportation obstacles that those with autism spectrum disorders (ASD) and other developmental disabilities, and their families, must overcome to carry out their daily activities and offers recommendations on how to remove the obstacles. Many challenges are associated with transportation, such as the inability to live independently, reach employers and health care providers and even engage in community and social activities.

The research found that New Jersey adults with ASD travel primarily as passengers of cars driven by their parents and other family members, which often results in stress, inconvenience and negative employment consequences for both the adults with ASD and their drivers. While the availability of accessible public transportation is crucial for everyone with all types of disabilities, including adults on the autism spectrum, many do not have access to public transport or possess the familiarity or skills to use these services.

“Very little has been written about the transportation issues encountered by adults with autism spectrum disorders,” said Cecilia Feeley, transportation autism project manager at the Center for Advanced Infrastructure and Transportation (CAIT) and the study’s co-principal investigator. The center conducted the two-year study with the Alan M. Voorhees Transportation Center at Rutgers’ Edward J. Bloustein School of Planning and Public Policy.

The report, Detour to the Right Place: A Study with Recommendations for Addressing the Transportation Needs and Barriers of Adults on the Autism Spectrum in New Jersey, gathered information on the challenges New Jersey adults with ASD face as they pursue employment, continuing education and other opportunities, Feeley said. The researchers interviewed 25 public and private stakeholders that serve the autism community, surveyed more than 700 adults with ASD and family members about transportation barriers, and staged six focus groups – four with adults with ASD and two with parents or guardians.

Participants from each focus group described their optimum transportation service provider as one that offers reliable and consistent service that crosses county borders, picks up customers close to their homes and offers travel instruction to empower adults with ASD to safely and independently use public transit. Parents noted the need for drivers to be well-trained in transporting adults with ASD. Adults on the spectrum desired service frequency in both peak and off-peak hours to improve their ability to pursue social events and outings. Both groups lamented that travel instruction was not offered in schools, nor included in students’ Individualized Education Plans (IEPs).

“Unfortunately, what we found is that transportation and safe mobility skills are not often taught during young adults’ school transition period or covered in their IEPs,” said Andrea Lubin, a senior research specialist at the Voorhees Center. “After graduation, many individuals on the spectrum and their families struggle to find feasible transportation options.”

Among researchers’ recommendations:

  • Establishing a New Jersey Autism and Developmental Disabilities Transportation Research Center to investigate and implement strategies for this population.
  • Developing and supporting transportation-focused training programs in educational settings and familiarizing children on the ASD spectrum and family members on transportation/mobility issues and options prior to graduation.
  • Developing and implementing training for vehicle operators and others who interact with adults with ASD for fixed-route transportation, paratransit, private, volunteer and on-demand services.
  • Pursuing location efficiency strategies for organizations that support adults on the spectrum, such as job-training centers, residential facilities, day programs and employment sites.
  • Conducting research on the relationship between employment and transportation for adults on the autism spectrum.

Adapted by MNT from original media release

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References

Detour to the Right Place: A Study with Recommendations for Addressing the Transportation Needs and Barriers of Adults on the Autism Spectrum in New Jersey Cecilia Feeley, Ph.D., Devajyoti Deka, Ph.D., Andrea Lubin, and Melanie McGackin. September 2015.

Rutgers University                 ……………….’

Intellectual disabilities share disease mechanisms, study suggests


Original post from Medical News Today

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Research suggests that different types of intellectual disabilities may benefit from common therapeutic approaches.

Brain disorders that cause intellectual disabilities and autism spectrum disorders may share common defects despite having different genetic causes, a study has found.

A study of two models of intellectual disability in mice has found that they share similar disease mechanisms.

Researchers found that treatment with a statin drug called Lovastatin – commonly used to treat high cholesterol – can correct high levels of protein production in the brain linked to the conditions.

The findings suggest that different types of intellectual disabilities may benefit from common therapeutic approaches, the researchers say.

Studies of people with learning disabilities have identified a wide range of genetic causes. Around a third of people affected also have symptoms of autism spectrum disorders, suggesting that the mechanisms underlying these conditions may be shared.

Researchers at the University of Edinburgh studied mice with a genetic mutation that means they produce lower levels of a protein called SynGAP. The mice show learning and behavioural difficulties and act as a model system to understand why people with mutations in the human version of the gene suffer from intellectual disability.

The team from the University’s Patrick Wild Centre and Centre for Integrative Physiology found that treatment with Lovastatin normalised levels of protein production in the brains of the mice. Their results suggest that Lovastatin acts by reducing levels of the active form of a protein called ERK1/2.

They compared their findings with mice that lack a protein called FMRP, which also causes cellular and behavioural changes that can be rescued with Lovastatin. Loss of FMRP in people leads to Fragile X Syndrome, the most common inherited form of intellectual disability and autism.

Further research is needed to determine whether the treatment can restore learning and development in people.

The study is published in the Journal of Neuroscience. It was funded by the Medical Research Council, the Biotechnology and Biological Sciences Research Council and the Patrick Wild Centre.

Professor David Wyllie, Director of the University of Edinburgh’s Centre for Integrative Physiology, said: “This study shows that the core deficits associated with two very different causes of intellectual disability are shared. This is important because it means that people with diverse types of intellectual disability or autism may benefit from the same treatment.”

Professor Peter Kind, Director of the University of Edinburgh’s Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities, said: “Statins, such as lovastatin, are already used widely for treating people, including children, for high cholesterol with minimal side effects. Further studies are needed to determine whether these existing medications could also help people with intellectual disabilities.”

Adapted by MNT from original media release

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University of Edinburgh    …………….’