A Link With Level Of Disability
The published case reports do not always include information on degree of learning disability but in those that have this information, a substantial number of the individuals described with Down syndrome and autism have severe to profound levels of disability. In 19 cases where the information is given, 12 have severe to profound levels of disability, 6 have moderate learning disability and 1 has a mild learning disability. In other words, most young people with this dual diagnosis were in the most delayed and cognitively impaired group of children with Down syndrome.
My son Daniel has both Down syndrome and autism. He was not officially diagnosed with autism till he was almost five years old. The delay with the diagnosis was not due to the lack of him having almost all of the symptoms for an Autism diagnosis, but due to the fact that he already had the diagnosis of Down syndrome and history of infantile spasms.
Who Should Have Fragile X Testing
Any male or female with intellectual disabilities, developmental delay, speech and language delay, autism or learning disabilities of unknown cause.
Any female with infertility, elevated FSH levels, premature ovarian failure, primary ovarian insufficiency, or irregular menses. Learn more.
Any male or female over 50 with features of FXTAS, including intention tremors, ataxia, memory loss, cognitive decline, or personality change, especially in combination with a positive family history of Fragile X.
Any preconception or pregnant female who expresses interest in or requests Fragile X carrier testing.
Brain Chemistry And Asd
The neurochemistry of autism is far from clear, and very likely involves several different chemical systems of the brain. This information provides the basis for medication trials to impact the way the brain works in order to elicit a change in behavior. An analysis of neurochemistry in children with ASD alone has consistently identified involvement of at least two systems.
- Dopamine: regulates movement, posture, attention and reward behaviors
- Serotonin: regulates mood, aggression, sleep and feeding behaviors
Additionally, Opiates, which regulate mood, reward, responses to stress and perception of pain may also be involved in some children.
Detailed studies of brain chemistry in children with DS-ASD have not yet been done. However, our clinical experience in using medications that modulate dopamine, serotonin or both systems has been favorable in some children with DS-ASD.
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A Complex & Evolving Relationship
The relationship between FXS and autism is complex and constantly evolving, and despite the frequency and severity of autism in FXS, there are still important gaps in knowledge due to limited research, samples, and surveys.
For further reading on the relationship between autism and Fragile X syndrome, see Fragile X Syndrome Related Concerns on the CDC website, and related consensus documents and articles below.
Down Syndrome And Autistic Spectrum Disorder: A Look At What We Know
During the past 10 years, Ive evaluated hundreds of children with Down syndrome, each one with their own strengths and weaknesses, and certainly their own personality.
Sometimes parents bring their child with Down syndrome to the clinicnot always for the first timeand they are deeply distraught about a change in their childs behaviour or development. Some families do their own research and mention they think their child may have autistic spectrum disorder along with Down syndrome. Others have no idea what may be happening. They do know it isnt good and they want answers now. This article is for families in situations like this and other, similar ones.
If your child has been dually-diagnosed with Down syndrome and autistic spectrum disorder or if you believe your child may have ASD, you will learn a little more about what that means, what we are learning through data collection, and insights to the evaluation process.
There is little written in the form of research or commentary about DS-ASD. In fact, until recently, it was commonly believed that the two conditions could not exist together. Parents were told their child had Down syndrome with a severe to profound cognitive impairment without further investigation or intervention into a diagnostic cause. Today, the medical profession recognises that people with Down syndrome may also have a psychiatric-related diagnosis such as ASD or Obsessive Compulsive Disorder .
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How Common Is It
Over the past 25 years, some dozen papers have reported cases of children and adults with Down syndrome and autism. There have also been some surveys in the UK and Sweden which suggest that about 5-7% of children with Down syndrome have autistic spectrum disorders. A recent study of a sample of young children in the USA found 2 children in a group of 20, giving a 10% incidence. These all suggest that the rate is considerably lower than the 16.7% that would be expected for children with IQs across the mild/moderate/severe range. In fact, it could be argued that children with Down syndrome have some inbuilt social strengths that reduce the likelihood of having autism despite their delayed language and intellectual development.
My wife Denise and I are parents of five children, three of whom have Down syndrome. Our middle child, Charlie , has dual diagnosis of Down syndrome/Autism. He clearly functions and learns at a different level than his siblings, who have “typical” Down syndrome.Mike Allshouse
Comparing The Differences Between Down Syndrome And Autism
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How To Seek A Second Opinion
Whittaker says you dont have to discuss that you wish to seek a second opinion with your healthcare professional, though it can be helpful for the second practitioner to get the information from the initial diagnosis.
Your healthcare professional can also refer you to someone else. Theyre used to patients asking for second opinions, Whittaker says.
From there, you can call different healthcare professionals to discuss your situation and unique needs.
Social anxiety and autism can feel overwhelming at times, but support is available. Whittaker shares several resources to help you navigate testing, therapy, and support.
Know The Signs Of A Dual Diagnosis Of Down Syndrome And Autism Spectrum Disorder
As a parent of a child with Down syndrome , navigating the healthcare system can be difficult and tiring, and finding the appropriate resources and interventions for your child can seem incredibly daunting. Now imagine your child has a dual-diagnosis. Did you know that 2-10% of individuals with Down syndrome also meet criteria for Autism Spectrum Disorder ? What does that mean for families? With a dual-diagnosis of DS and ASD, families have more access to valuable resources and benefits for their child, such as medication and/or behavioral treatment like social skills training and Applied Behavioral Analysis therapy.
With this blog, parents will be able to better understand the differences and similarities between Down syndrome and autism spectrum disorder, consider if their child meets the criteria for a dual-diagnosis, and determine appropriate next steps.
Down Syndrome Characteristics
Down syndrome is a genetic condition that occurs when there are three copies of Chromosome 21. Physical attributes can include small mouth and nose, large tongue, almond-shaped eyes with skin that covers the inner eye, and stunted growth. Individuals with DS often experience physical challenges as well, such as vision and hearing impairments, and weight problems. DS can be detected during pregnancy through prenatal screening and diagnostic testing. According to the National Down Syndrome Society , common behaviors of children with DS include:
Autism Spectrum Disorder Characteristics
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Signs And Symptoms Vary
Although we are documenting some similarities in the way DS-ASD presents, autism is what is considered a spectrum disorder. This means every child with DS-ASD will be different in one way or another. Some will have speech, some will not. Some will rely heavily on routine and order, and others will be more easy-going. Combined with the wide range of abilities seen in Down syndrome alone, it can feel mystifying. It is easier if you have an understanding of ASD disorders separate from Down syndrome.
Autism, autistic-like condition, autistic-spectrum disorder and pervasive developmental disorder are terms that mean the same thing, more or less. They all refer to a neurobehavioral syndrome diagnosed by the appearance of specific symptoms and developmental delays early in life. These symptoms result from an underlying disorder of the brain, which may have multiple causes, including Down syndrome. At this time, there is some disagreement in the medical community regarding the specific evaluations necessary to identify the syndrome or the degree to which certain “core-features” must be present to establish the diagnosis of ASD in a child with Down syndrome. Unfortunately, the lack of specific diagnostic tests creates considerable confusion for professionals, parents and others trying to understand the child and develop an optimal medical care and effective educational program.
There is general agreement that:
Abnormal Brain Synchrony In Down Syndrome
Adjacent brain regions are more synchronized in Down Syndrome.
Distant brain regions show less synchronization in Down Syndrome.
Negatively correlated brain regions are less anticorrelated in Down Syndrome.
Down Syndrome subjects show simplified brain network architecture.
Increased brain synchrony does not reflect a response to environmental stimuli.
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Structural Language And False Belief Understanding Differences
Our results indicated that the poorer structural language skills of individuals with DS relative to those with FXS are likely a consequence of their lower level of NV cognition. Or put differently, when statistically matched on NV cognition, the two groups are equally impaired in terms of virtually all structural language variables examined.
The present findings regarding structural language contrast with the findings of several previous investigations that have suggested a weakness in expressive syntax for participants with DS relative to participants with FXS, even when the groups are matched on cognitive functioning . Because the present project utilized multiple measures of structural language, including syntax measured in a standardized test and in a structured naturalistic conversation and with similar results across measures, the difference between our findings relative to other studies are not likely to be due to task or context . Instead, it is more likely that the difference between our findings and those of previous studies is due to differences in participant characteristics, such as age, sex distributions, or language criteria for enrollment.
Pragmatic Skills Differences
Cognitive and Behavioral Differences Between Males and Females With Down Syndrome
What Is Fragile X Syndrome
FXS is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. The agreed upon prevalence of FXS is approximately 1 in 3,6004,000 for males and 1 in 4,0006,000 for females.
No one individual will have all the features of FXS:
- Behavioral characteristics include ADD, ADHD, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders, increased risk for aggression, and autism and autistic-like behaviors.
- Intellectual disabilities include a range from moderate learning disabilities to more severe intellectual disabilities.
- Physical features may include large ears, long face, soft skin, and large testicles in post-pubertal males.
- Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers, and hyper-flexible joints.
- Disposition: They are very social and friendly, have excellent imitation skills, have a strong visual memory/long term memory, like to help others, are nice, thoughtful people and have a wonderful sense of humor.
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What Is Down Syndrome
Down syndrome , is also termed as trisomy 2. It is a genetic disorder which is triggered by the third copy of chromosome 21. People with down syndrome show mental equivalent of an eight and nine-year-old. However, some individual can lead a very normal life.
The condition is usually characterized by delay in growth, a poor muscle tone and a lower IQ.
The disorder occurs by chance and can be detected in the womb itself.
What Is The Difference Between Autism And Autistic
The important distinction is that a term like ‘autistic’ implies that the child would be completely different if not for autism. In other words, autism makes a child who they are. Some also argue that this term is perhaps more reflective of reality as unlike an illness, autism will always be part of who this child is.
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What Can We Do To Improve Diagnosis
At present, we can draw attention to the guidelines already available from experts in autism such as Pat Howlin – seebox. Her guidelines emphasize the need to consider the child’s level of cognitive and language functioning in order to be able to interpret behaviors in the context of the child’s current developmental level.
In adapting these excellent guidelines to be specific for children with Down syndrome, I would want to be sure that anyone assessing the child was aware that possible symptoms considered ‘autistic’ such as ‘obsessional’ repetitive behaviors, sensitivity to sensory stimulation and a dislike of change are common and not usually associated with any social or emotional deficits.
Degree of learning disability
Severe = IQ 21-35
Profound = IQ below 20
I would highlight the need to take a medical history first to identify any reasons to suppose the child has additional brain damage and also to screen for any existing conditions such as severe hearing loss or hypothyroidism or any conditions causing pain which have not been detected.
Impact Of Sex In Ds Participants
Descriptive statistics, Cohen’s d, and confidence intervals for the comparison of females with DS and males with DSâmatched on both CA and NV cognitionâon each of the dependent variables are presented in Table 3. Cohen’s drevealed large differences on nearly all measures of structural language, with all differences reflecting better performance on the part of the females with DS. The exceptions were talkativeness and dysfluency in conversation, which were found to fall in the no significant differences category according to Cohen’s d. We also found that the Cohen’s d suggested that there were no significant differences between males and females with DS on any of the measures of social cognition, pragmatic skills, or behavioral problems.
Table 3. Descriptive analyses, Cohen’s d, and confidence intervals for cognitive, linguistic, social-cognitive, and behavioral performance of males with DS compared to females with DS matched on CA and NV cognition.
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Comparing Adults With Asd To Adults With Ds On Measures Of Independence In Adult Life
Our first research aim addressed differences between adults with ASD and adults with DS on three core domains of independence in adult life, namely residential independence, social contact with friends, and vocational independence. Because of small sample sizes within cells, living independently or in a hospital or institution were excluded from the MANCOVA for residential independence. MANCOVAs revealed significant group differences with respect to residential independence, F = 13.49, p< .001, and social contact with friends, F = 4.21, p< .01, but not with respect to vocational independence, F = 1.29, p = .28 .
Brain Development And Asd
The development of the brain and how it functions is different in some way in children with DS-ASD than their peers with Down syndrome. Characterizing and recording these differences in brain development through detailed evaluation of both groups of children will provide a better understanding of the situation and possible treatments for children with DS-ASD.
A detailed analysis of the brain performed at autopsy or with magnetic resonance imaging in children with autism shows involvement of several different regions of the brain:
- The limbic system, which is important for regulating emotional response, mood and memory,
- The temporal lobes, which are important for hearing and normal processing of sounds,
- The cerebellum, which coordinates motor movements and some cognitive operations, and
- The corpus callosum, which connects the two hemispheres of the cortex together.
At Kennedy Krieger Institute, we have conducted MRI studies of 25 children with DS-ASD. The preliminary results support the notion that the cerebellum and corpus callosum is different in appearance in these children compared to those with Down syndrome alone. We are presently evaluating other areas of the brain, including the limbic system and all major cortical subregions, to look for additional markers that will distinguish children with DS-ASD from their peers with Down syndrome alone.
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General Themes Across Different Clinical Conditions
The second general issue is whether the language symptoms appear to be delayed or deviant relative to normal development. Although this issue has been most explicitly investigated for the condition of SLI, it is also intrinsic to the interpretive issues that apply to other conditions of language disorders. In the delayed scenario, the language impairments can seem to share many points of similarity with younger, typically developing children, as if the language system is chronologically guided such that by a certain age level typically developing children have acquired a set of particular language skills, whereas the language of children with language impairments reflects a less mature pattern very similar to younger children. In contrast, in the deviant scenario the language system of children with language impairments might not parallel that of younger children. Instead, the kinds of errors and limitations in language use and competency are inconsistent with what is known about any given level of typical language acquisition. The distinction between delayed and deviant bears on interpretation of the language impairment and possible etiological considerations: Are the linguistic systems of affected children fundamentally similar to unaffected children, or are the systems fundamentally different? Are underlying neurocognitive processes and mechanisms fundamentally similar or different? This issue will be highlighted when appropriate in the following review.