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Early signs distinguish autism from other disorders

by  /  24 April 2014

Motor challenges: Toddlers later diagnosed with autism have trouble grasping and manipulating objects.

A new study finds that at 9 months of age, babies who go on to be diagnosed with autism show few behavioral signs distinguishing them from either their typically developing peers or those with disorders such as cerebral palsy, speech impairments or intellectual disability.

By age 2, however, these children show difficulty with movement, communication, emotional control and problem solving, reports the study, published 19 February in the Journal of Early Intervention1.

The findings indicate that autism can be identified as early as age 2. In the U.S., the average age of autism diagnosis is 4 years.

Diagnosing children earlier can give them access to treatments, says lead investigator Rosa Milagros Santos, professor of special education at the University of Illinois at Urbana-Champaign.

Santos and her colleagues used data from the Early Childhood Longitudinal Study, Birth Cohort, a nationally representative sample of U.S. children born in 2001 and followed through kindergarten. Unlike studies that rely on parental memory or home videos to identify autism’s early signs, the researchers collected cognitive, social and behavioral information as the children grew. They relied on parents to report whether their children had a diagnosis of autism at age 4.

“The beauty is that this is happening at the same time the parents are reporting it,” Santos says. “You’re not relying on the memories three or four years from now.”

The new findings are in line with those of other studies looking for large-scale differences in behavior to predict autism in infant siblings of children with autism. These so-called ‘baby sibs’ are at a 20-fold increased risk of autism compared with their peers.

But by definition, baby sibs don’t represent the general population and may have distinct characteristics.

“There is a question about the generalizability of the findings from those prospective family studies,” says Rebecca Landa, director of the Center for Autism and Related Disorders at the Kennedy Krieger Institute in Baltimore, who was not involved in the new work.

The new study found early predictors in a general-population-based sample, suggesting that the same markers gleaned from baby sibs can detect autism in other populations.

Early predictors:

The study examined about 100 children with autism, 1,100 with disabilities such as hearing impairments or intellectual disability and 7,700 typically developing children.

Trained interviewers administered developmental surveys and tests to the children at home at 9 months of age and again at 2 years of age. At 9 months, the children later diagnosed with autism were more likely than children in the other two groups to wake up three or more times a night.

At both ages, those in the autism and disability groups are more likely than the controls to transition quickly from whimpering to intense crying. This suggests that the children have trouble managing their emotions, the researchers say.  

However, 9 months is a key period in child development, says Sylvie Goldman, clinical assistant professor of neurology and pediatrics at Albert Einstein College of Medicine in New York, who was not involved in the study.

“That’s the time of separation anxiety,” Goldman says. “Children are going to be much more irritable, less engaging and they’re going to be fearful when someone new comes in. You might actually identify things that are just part of normal development.”

The differences among the groups became more obvious at 2 years. Parents in the autism group reported that their children used about 10 words, compared with about 22 for the disability group and about 30 for the controls.

The children later diagnosed with autism also performed significantly worse at age 2 than the other two groups on their ability to name objects, listen to others and recognize and use words. On another test, children in the autism group did not match colors or use numbers as well as those in the other two groups.

They also had trouble grasping and manipulating small objects and difficulty with sitting, standing and walking. Other studies have shown that children later diagnosed with autism show a number of motor delays beginning in the first few months of life, including having floppy arms and difficulty sitting up.

Because autism is a social disorder, the researchers examined how the children interacted with their mothers. At age 2, the children in the autism group smiled less and cried more while interacting with their mothers than those in the other two groups. When playing with their mothers, they preferred to keep their toys as opposed to reaching for new ones as the other children did. They also became easily frustrated and were less persistent and cooperative than children in the other two groups.

Those in the autism group also demanded more of their mothers’ attention and became more inconsolably upset when they were separated from their mothers compared with children in the other two groups.

“I do think it’s part of autism, this inability to self-soothe,” Goldman says. “It’s not a marker, but something very specific to autism.”

Some of the sharp behavioral differences in the autism group may have prompted the families to enroll their children in therapy, Santos says.

“If you take [these signs] all together, you can see there is something to be concerned about,” Santos says. “It’s not just about one thing or two things.”

By age 4, 95 percent of children with autism received speech or language therapy, and 81 percent had occupational therapy to help them engage in daily activities such as brushing their teeth.

In contrast, among children with disabilities, 39 percent and 25 percent received these kinds of therapy, respectively. Less than 1 percent of typical children are enrolled in these services.

The study’s findings serve as a reminder for doctors to listen to parents, Landa says. “What the parents are reporting might be the tip of the iceberg,” she says. “When they become concerned, turn the stone over and look under it.”


1: Jeans L.M. et al. J. Early Interv. Epub ahead of print (2014) Abstract

  • Anonymous

    Seems like these early behavioral signs of autism very closely resemble symptoms of a mitochondrial dysfunction in children which can also present as a spectrum.

    “Presentation and Diagnosis of Mitochondrial Disorders in Children”
    Mary Kay Koenig, MD

    “The nervous system is the most commonly affected system in mitochondrial disorders. Approximately 45% of children present with neurologic signs [12] (Table 2). Most patients with neuromuscular symptoms will have either normal or only slightly elevated (<2 × normal) serum creatine kinase [12–15]. The results of electromyography and nerve conduction studies are also usually normal [12]. The unexpected findings of a normal creatine kinase level or normal electromyography in a patient with significant muscle weakness should therefore be a clue to search for a mitochondrial disorder. Approximately 20% ofdemonstrate intellectual dysfunction [13] or psychiatric disturbances [16,17]. Ten percent demonstrate hepatic signs [4,12]. Mitochondrial patients are particularly sensitive to valproate-induced liver failure, and a mitochondrial disorder should be considered in any child presenting with valproate-induced hepatic signs [18,19]. Cardiac presentations include arrhythmia, cardiomyopathy, cardiac murmur, or sudden death [12]. Up to 10% of children demonstrate hematologic symptoms, including pancytopenia [12]. Renal symptoms are uncommon (<5%) [12], but the most commonly found abnormality is proximal tubulopathy. Nephritic syndrome, tubulo-interstitial nephritis, and nonspecific renal failure are also found [12,20]. Growth failure presents as short stature in approximately 20% of mitochondrial patients [13], and endocrine problems include hypoparathyroidism, hypothyroidism, diabetes insipidus, diabetes mellitus, hypogonadism, and adrenocorticotropin hormone deficiency [12,17,21]. There are even several case reports of children with mitochondrial disorders with ketotic hypoglycemia as their only presenting sign [4,22]. Although such a presentation is uncommon, children may be dysmorphic, demonstrating features similar to those of fetal alcohol syndrome (microcephaly, round face, high forehead, featureless filtrum, low-set ears, and a short neck) [12]. Skin findings include multiple lipomatosis, scaly pruritic erythema, reticular pigmentation, hypertrichosis, eczema, or vitiligo [17]. Patients may exhibit ophthalmologic abnormalities such as retinitis pigmentosa [13], but vision is usually preserved in childhood [12]. Reports of sensorineural deafness range from 7–26% in children; deafness is more common with increasing age [13,23]. Gastrointestinal symptoms include anorexia, frequent emesis, abdominal pain, diarrhea, and constipation that can be so severe as to cause chronic intestinal pseudo-obstruction [4]."

  • ASD Dad

    There are three major aspects that have been identified that may contribute to the developmental pathway that is ASD. Epilepsy / Seizure activity , Gastrointestinal Diseases / Disorders and Inflammation / Autoimmune diseases.

    Knowing this we must move to systematic and thorough research paradigm that also provides for reporting on pathology samples ie blood / urine / stool.

    This may also provide answers for whether such elemnets as mitochondrial diseases as suggested above play a part in the lives of some ASD children and adults.

  • Rose

    “They also had trouble grasping and manipulating small objects and difficulty with sitting, standing and walking. Other studies have shown that children later diagnosed with autism show a number of motor delays beginning in the first few months of life, including having floppy arms and difficulty sitting up”

    This sounds like more than a social disorder to me. Isn’t the cerebellum involved in movement, and also the first part of the brain to form? This makes it seem early in fetal development. Also, systemic as motor, language, higher brain functions such as socialization affected.

  • Anonymous

    Autism and Mitochondrial dysfunction are known to be linked according to Mitochondrial experts. Dr. Bruce Cohen who is a mitochondrial expert spoke about the autism-mito link after the Hannah Poling case. So why not cut to the chase and look for signs that indicate an underlying mitochondrial dysfunction?

    Dr. Bruce Cohen talking about the Mito Autism Link with Dr. Timothy Johnson, ABC news

    “Children with autism have mitochondrial dysfunction, study finds
    Date:November 30, 2010
    Source:University of California – Davis Health System

    “Summary:Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children, according to new research. A study found that cumulative damage and oxidative stress in mitochondria, the cell’s energy producer, could influence both the onset and severity of autism, suggesting a strong link between autism and mitochondrial defects.”


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