What If the Diagnosis of Autism Is Wrong?

One adorable 2-year-old child came to see me for a speech consultation and the parents sat down on the floor and cried. He had a shiny, floppy haircut with bangs that hung over his big blue eyes. In between throwing trucks and screaming, he looked at me. The mother said that he was waking up every hour or so at night, screaming, and if she picked him up, he yanked her hair and cried for hours. They had no sleep and very little confidence in their ability to be parents at this point.

The boy had what appeared to be chronic reflux and stomach pain. His parents’ lives were literally “turned up side down” by this child. A team of early intervention specialists and medical doctors that saw them suggested it was a psychological disorder and that he was on the autism spectrum. But the parents knew that something was medically not right—and their intuition was correct. They would have accepted the diagnosis of autism, but they needed help with these symptoms that were confusing.

I saw this young boy for two years for language and play therapy; that is, we worked on speech sound combinations while we played. I took him to farms, outside to a pond, and worked in natural settings (playgrounds, parks, on swings, at his school) when it was possible. His teachers were also helping him at his school. He often had tantrums and crying spells. I sent them to a gastroenterologist for an evaluation. His language and speech production improved at a slow but steady rate, but when he was in pain, his language was unintelligible.

After several months, we teased out the medical issues, with the help of the gastroenterologist, Dr. Buie. We found that their son had a constellation of GI disorders that were directly tied to his disruptive behaviors and inconsistent sleep patterns. The parents learned that their child had been in pain as a result of a number of medical conditions. Due to his behavior as a result of this condition, he presented like a child with severe autism. With medical intervention, he stopped throwing tantrums and trucks and his sleep patterns improved.

He is now in a small school and the teachers are wonderful. He is doing well with typical peers, relating socially, and ahead cognitively, compared to his peers at 5 years of age. He has learned to talk, to use language to express his own ideas and his emotions. He is relating to peers, is socially connected, and is a happy, typical 5-year-old. One medical expert familiar with the child sent me an email: “Ann, what kind of magic did you do to get him better?” Perhaps the medical intervention combined with early speech and play therapy in natural settings helped him move forward. However, in the beginning, the early intervention therapists and the medical specialists had the wrong diagnosis. The autism diagnosis was almost an excuse for not dealing with the medical problems. In addition, his crying and challenging behaviors made it difficult for his specialists to unravel the complexity of his issues.

I saw another 3-year-old child who had an autism diagnosis after being evaluated by a neuropsychologist and a neurologist. The child looked down more than 75% of the time and rarely looked up. She retreated when classmates came near her. The teachers and parents carried her around. She didn’t want to be social. The teachers assumed it was autism after seeing her report and diagnosis from a prominent neuropsychologist. The neuropsychologist recommended that she have 30 hours of ABA (Applied Behavior Analysis) training all day long. I was the consulting speech pathologist and I felt that she needed a trusting relationship with a play therapist a few hours a week. She had this relationship with her classroom teachers, but she needed to learn language production. I felt that if she were to be in a structured ABA program, she would resist and not relate.

I admit that she showed some of the clinical signs that many children on the autism spectrum display. In a Yale Child Study Center report, it was noted that “toddlers with delayed language development are almost identical to their autism spectrum disordered counterparts in their use of eye contact to gauge social interaction.” After 35 years as a speech pathologist, I’ve seen many children with a diagnosis of autism that turned out to be a combination of language delay, sensory issues and apraxia. This child had long beautiful hair that hung over her face, but she looked up only now and then to smile at me. We started our speech therapy by playing with a puzzle that her teachers said calmed her down. She resisted transitions in class and she wanted to be held.

One day, after two weeks of play therapy three times a week, I brought her “Frozen-Elsa” hair barrettes to get her beautiful long hair out of her eyes so she could see. She started to look at everyone. We started the journey of using language on the swing in a small room at her school. She began to approximate single words. After about 6 weeks, she was talking, but still resisting transitions and not connected to her peers. She was improving and just learning how to read the cues of language. Her 6-month-old brother is also at the school, and she is learning to use language to tell him that she loves him and she misses him when he’s in the childcare room. Her language is now at age level, commensurate with that of her peers. She is happy, relating to others and doesn’t need one-on-one help. Her teachers kept helping her to use language. She worked in the context of play three times a week for an hour each time.

She had a condition known as a “language delay” and I suspect she had some sensory processing difficulties. She was overly sensitive to touch, loud sounds, retreated in new surroundings, and was happy on a swing. She responded to early treatment, mainly play therapy and help from her teachers and her classmates. She started talking and using language to connect her emotions and her language. She is now at the same level as her peers regarding language skills. She is socially connected and a happy child. Her parents are almost in disbelief. She no longer met criteria for ASD as the result of the early intervention and play.

The most striking case of a child who was misdiagnosed with autism at the age of three was a young boy with big blue eyes and sandy blond hair. He was adorable, but he didn’t speak and used only gestures and crying to protest and to request. He was hanging onto his mother with both hands gripped around her neck during our first meeting. He looked away from me. I walked over to the train set and gave the mom a Thomas train that made a giggle sound. He buried his head in her lap. She explained how he resisted the ABA therapy and wanted to leave the room. He had been seen by seven speech pathologists and he had refused to say anything. But, with careful, slow work, three sessions later, he was playing with the train set. A train fell off of the train track. He giggled and looked at me. I said, “Oh, you need tape!” I was just using my sense of humor since I could see the expression on his face. He smiled. I walked toward my desk and picked up some scotch tape, giggling back at him. He was unintelligible, but he tried to say, “I see tape!”

This was our beginning and from then on he was able to use some language; it was unintelligible, but he was trying to connect with me. He had a few vowel sounds, and unclear consonant sounds. As we progressed in sound production therapy, I gave him the Apraxia Profile test and found that he clearly met the criteria for Developmental Verbal Dyspraxia (apraxia).

Apraxia means that the child meets several criteria. One is that the child has receptive (cognitive) understanding of language, but can’t express himself with language. It also means that the child can’t blend the sounds in a word to create intelligible communication. They leave off sounds, make up sounds, distort vowels and use gestures to request and to protest to parents. Since he was aware of his inability to be understood, he refused to talk at first. He appeared to be on the spectrum, but instead he was struggling with apraxia of speech. There are children in several studies that demonstrate autistic tendencies, but who are later are diagnosed with apraxia of speech.

One year later, he is talking and relating to his family and his peers. He is over 80% intelligible and he recently met with his neurologist, who was thrilled. He no longer fits the diagnosis of autism. Of course, he looked like a child with autism a year ago. Sometimes, the apraxia is like a “mask” and any good professional may think that the behavior is a part of autism. He was repeating videos and he was fixated on trains and very inflexible. Currently, he no longer exhibits those behaviors. Sometimes, he has trouble with transitions or wants his sister to give him a toy. He is a typical 4-year-old with typical behavior, developmentally, of that age group.

How does this happen? There are many neuropsychologists who are excellent and take time to evaluate a child. Sometimes, children do not perform well because they are afraid of the unfamiliar adult or the testing tasks and environment. Sometimes, at a young age, particularly in cases of a language delay, the child doesn’t understand the intent of the question.

Experts now believe that “autism” is heterogeneous and as such has many causes that can lead to differing underlying neurobiology and clinical presentations. This can make it challenging for professionals to accurately assess a specific child’s abilities. Some children have pain and discomfort but are unable to tell someone about the pain because they don’t have the language to express it and are afraid that they may have done something wrong. They don’t understand pain.

Some children have medical conditions and autism, while others have medical conditions and no autism. Some children have learning disabilities and autism and others have only learning issues that look like autism. Some children are inattentive and can’t focus on testing. Some children have processing issues and can’t respond in enough time to be evaluated at all.

For the past 30 years, I have been a speech and language pathologist working in a private practice as well as consulting for several schools. I help parents and teachers with a plan and curriculum to help children with language delay. I have written a book about helping children with autism become more social. I’m not a neuropsychologist, but I know young children well, and I hope we can solve this problem. I’m not saying that these professionals aren’t trying to do their evaluations and jobs well. Many are doing their best but often lack the diagnostic tools to accurately evaluate a non-verbal child in the short time often allotted for an assessment. A child can be significantly inhibited by unintelligible or absent language and can then appear to be very atypical. It may take years to figure out better methods of accurately evaluating very young children, especially those who are non-verbal, but sometimes it only takes early play therapy, a trusting relationship with a child plus a pair of barrettes or a roll of tape to solve the issues.