Part I
History of Early Signs and Interventions
Chapter One
The prodromal phase of autism and outcome of early treatment
Henry Massie
Although Kanner first described autism in 1943, its aetiology and treatment remained a mystery when I was training in psychiatry in the late 1960s and early 1970s. Today in a new century it still remains one of medicine's great challenges. Progress exists, however, in that many mental health professionals, paediatricians, nurses, and educators now know that treatment has the best chance of preventing autism from handicapping a child for life if it is begun very earlyâwhen the initial signs of autistic disturbance first appear, typically between 6 and 18 months of life, before the condition is fully established later in the second or the third year of life.
My own research in autism (by which I refer to the whole spectrum, from severe with little or no speech or relatedness to high functioning with considerable speech, interpersonal relatedness, and normal or near normal cognition but also marked oddities in social and emotional functioning and some motor mannerisms or stereotypies) has focused on identifying the earliest manifestations or prodromal signs of the condition in order to facilitate the earliest possible treatment.
My work began in 1971 when the family of a severely afflicted 5-year-old girl whom I was treatingâthough without an effective plan because none existed at that timeâoffered me the home movies they had made of the child as a baby before they suspected a problem. I spent hours viewing them, often in slow motion, and saw that until 4 months the child had a good, strong smile for her parents, and then lost it and started avoiding eye contact. The mother, when she did make eye contact with the infant, made little or no effort to sustain itâcertainly not the vigorous effort that we now understand might have prevented the child's gaze-aversion and withdrawal. Unconscious of what was sadly transpiringâeven unconscious of her own mounting tension and sense of failureâthe mother sometimes turned away herself from the child. Her husband, less involved, was even more unaware, and the couple had nobody to guide them with this first baby. By the end of the first year, the films showed that the child no longer made eye contact and had many other symptoms of autism.
Developmental theories of the time suggested that the mother's failure to meet her baby's eye gaze may have caused the disorder, but we now know that parents do not cause autism. Current research indicates that a variety of rare physiological and neurological conditions, some genetically mediated, underlie autism. Potential underlying physical conditions include structural abnormalities of the brain, abnormalities of metabolism--, digestive-tract disorders that link to central nervous system hormones and transmitters, disturbances of activation of different central nervous system circuits, and allergic or autoimmune states (Courchesne, Townsend, & Saitoh, 1994; Vargas, Nascimbene, Krishnan, Zimmerman, & Pardo, 2004; Welch et al., 2005). Nonetheless, these findings are all still imperfectly understood, and they are not necessarily specific to autism. The underlying conditions may directly lead to an autistic syndrome, or they may render children vulnerable to environmental factors that precipitate the syndrome. Potential environmental precipitants are viral infections, vaccination reactions, allergens, and severe psychological trauma and emotional deprivation. These are bio-psychosocial events that would not necessarily produce autism in non-vulnerable children. It is likely that autism is multi-determined. That is, different factors or combinations of factors cause the condition in different children.
Without a precise pathophysiology for autism, treatment lacks specificity or predictable success, except for the inflammatory and allergic states present in some autistic children where biomedical treatment such as antifungals and dietary programmes such as gluten- and casein-free diets can bring considerable symptom relief. But we can be precise about three things. First, we need to recognize the infancy signs of autism. Second, we have to observe how they impair dyadic parentâchild interactions. Third, we have to help parents respond to their infants' social deficits. If this three-step sequence is followed, a baby's development can often be stabilized so that it does not deteriorate. Sometimes treatment can prevent autism from crystallizing in the second and third years of life, thus allowing the child to develop normally.
The prodromal phase of autism
I now focus on the initial signs of autism prior to intervention, returning later to treatment approaches. Following my first case, in the 1970s, I organized a project that collected a series of 20 home movies of children with autistic-spectrum disorders. Each family typically provided several hours of 8-mm and 16-mm film of family activities, holidays, and birthday parties. The research team studied the movies in comparison with a control group of similarly made home movies of non-ill children. Later the film analyses were amplified with reviews of the case records, interviews with the family, and sometimes interviews with the therapists.
The initial case highlighted how the child began avoiding eye contact with her mother and had lost her smile for her parents by age 6 months. Films from another case in the series showed a child who did not mould his body to his mother when she held him in the first six months, and was struggling away from her after five months. His eye gaze was normal early on, but his smile was lifeless and never conveyed excitement or recognition in response to his mother's face or presence. Overall this child had less-than-normal activity, reaching, attention to, and excitement at objects and people. The parents responded to their child and did not block any of his gestures towards them. But they were relatively inanimate themselves, and they lacked playfulness. They were unable to compensate for their baby's flaccidity by accentuating their efforts to draw him into a relationship with them. Between the ages of 3 and 6 months, this child's placidity gave way to irritability and a look of depression. A depressed affect first appeared on the mother's face when the child was 6 months old. After this time the boy's expression constricted into impassivity and never matured into firm expressions that communicated moods, intentions, or meanings. Instead he gave the appearance of marked self-absorption. A hand-waving autism appeared at the end of the first year, and his illness was clearly established in the second year.
Other cases illustrated families becoming disorganized, even destructive towards their children, as they felt their babies not developing emotionally, relationally, or slipping away from them in the first and second years of life. Typically, at this early stage, the parents were not fully conscious of their own anxiety and reactions, nor were they yet receiving guidance from professionals. Thus, in another family, the mother and father competed with each other to draw the child into a relationship after they sensed him slipping away. Film scenes show the mother reaching for and interacting slowly and gently with the child. The father moved with an entirely different rhythm that was rapid and forceful, and, impatiently, he occasionally took the child out of the mother's arms. Caught in the middle, the baby appeared confused. Similarly, in another family an impatient grandmother (apparently succumbing to her own anxious pressure to get a gloomy infant to show signs of normal emotional life, to smile, and later to walk at an age before the baby was ready) repeatedly interferes when the mother and child are sharing quiet moments together. The mother was not able to fend off the intrusive grandmother.
A mother and father are seen in another family becoming desperate at the child's first-birthday party when he shows neither pleasure nor interest in his presents. His expression is immature and labile. The scene ends with the parents exasperatedly throwing the gifts at the child (though not so hard as to cause bodily injury); the toddler rolls away from them, grimacing.
Two other cases strikingly highlight the prodromal phase and then the initial symptoms of autism. For example, family-made films follow non-identical twin daughters from early infancy into childhood. The parents respond to both children in a straightforward manner that appears free of conflict or avoidance. The child who becomes autistic is less active than her sister in the first weeks and months and has less eye pursuit and exploration of her environment. In the second six months when she starts to crawl, and later when she starts to walk, she is unusually uncoordinated, and her body moves in a fragmented way that does not correspond to any specific neurological sign or pathology. During this phase in the second half of the first year, the child has only fleeting half smiles, and her primary mood is irritability. On the other hand, her sister has strong smiles for her mother, and by age 1 year shows a full range of well-formed expressions. By the end of the first year, the twin whose development is going awry has hand-flapping stereotypies, episodes of flailing hyperactivity, and pushes away from her parents when they try to hold her, in contrast to her sister and children in the control films.
The final vignette is of a child who was separated from her mother from 7 to 11 months of age while the mother was treated for tuberculosis. Prior to the separation the child had bright, ready smiles and responses to her mother. At times, however, the child appeared more self-absorbed than other children. During the separation this baby had the misfortune to have aloof and mechanical caretakers and a remote father. When she was reunited with her mother, the baby avoided eye contact, developed marked stereotypies such as rocking her body to and fro for long periods of time, and never developed the ability to communicate clearly with facial expressions or words. This history of a traumatic experience ushering in autistic symptoms and developmental regressions is not unusual in case reports of autism. For this child the trauma was separation from her mother and poor surrogate care-taking. In other cases, symptoms and regressions to symptoms from more advanced developmental stages have followed flu-like illnesses with high fevers, febrile vaccination reactions, the onset of severe food allergies, and emotional trauma such as a parent's absence.
The following tables and figures, adapted from earlier publications (Massie, 1978a, 1978b; Massie & Rosenthal, 1984), summarize the findings. Table 1.1 lists signs of unusual development that appeared in films of children who later received a diagnosis of autism in the second to fifth year of life. It is important to emphasize that none of the early signs in Table 1.1 are specific to autistic-spectrum disorders. They may also occur in children who go on to develop normally, or who develop conditions as widely varied as learning problems, anxiety, and hyperactivity. These first-six-month signs were, however, more frequently observed in children who became autistic than in control films of the infancies of normal children in our study.
Table 1.2 focuses on specific symptoms that appear from 6 to 12 months. Case reports indicate (Alonim, 2004) that if treatment begins during this period, it has the best chance of preventing fixed autism. Table 1.3, which presents symptoms of established autism, typically at 12 to 24 months, shows the indicators of continuing developmental failure. Nonetheless, the second and third years of life are still an age when intensive therapeutic intervention may reverse autistic symptoms (Acquarone, 2004; Alonim, 2004, 2005; Edelson & Rimland, 2003; Lovaas, 1987).
Table 1.1. Signs Of Unusual Development From Birth To 6 Months In Children Later Diagnosed As Autistic*
|
Flaccid body tone |
Lack of responsiveness or attentiveness to people or things |
Lack of excitement in presence of parents |
Lack of anticipatory posturing on being picked up |
Vacant, unfocused gaze |
Less than normal activity (e.g. reaching for objects) |
Specific motor deviations (e.g. head lag on being pulled to sitting, facial palsy, ptosis [eyelid droop]) |
Eye squint mannerism |
Predominantly irritable mood, little smiling |
More somnolent than typical child |
|
The film study worked largely with home movies without soundtracks because of the era in which the films were made, so it did not systematically study the speech and language of the children. The medical records, however, did indicate that all of the children had communication impairments that, depending on the case, ranged from absence of speech, to unpredictable verbal responsiveness with echolalia and perseveration, to relative fluency. When children had near-normal speech, they nonetheless spoke with a stilted, flat tonal quality; used some words idiosyncratically; and lacked emotionally spontaneous expressions.
Table 1.2. First symptoms of autism, typically 6â12 months
|
Seeming hallucinatory excitement |
Appearance of self-absorption |
No visual pursuit of people |
Repeatedly looking away from people |
Avoiding mother's gaze |
Resisting being held, arching torso away from parents |
Autisms/stereotypies/motor mannerisms: hand-flapping, finger-dancing movements, rocking, spinning |
Plastic expressions that do not communicate affect or intention |
Labile facial expressions... |