What is hellers syndrome

In an analysis of 15 participants with CDD, Gupta found that 14 carry rare mutations in one or more of 40 genes. The genes stand out for three reasons: They have never been linked to autism; they are expressed not in brain regions usually associated with autism, but rather in those Pelphrey found altered in brain scans of people with CDD; and postmortem studies of gene expression have shown that 11 of the 40 genes surge in activity in those areas between ages 3 and 8 — the period during which CDD usually emerges.

Gupta looks pained as she acknowledges that with so few people studied, these findings are merely suggestive. In the decades after Heller wrote up CDD, most scientists thought the condition arose from some biological anomaly. When the crude tools of that time found nothing biological, theory and research moved elsewhere, but with little effect. B ernardo thinks a lot lately about how and where Gina will live when he is gone. Yet increasingly it presses on his mind.

Where, for instance, will Gina live? Bernardo was already working on this. Gina spends 35 hours a week in an adult day program at Eden, a school near their home on Staten Island for people with developmental issues. A board member at the school, Bernardo hopes to convince state, city and private benefactors to help build a residential center for women with disabilities along the same lines.

Open book: Although Gina rarely speaks more than two words in a row, with help she can read books written for fifth-graders. In the here and now, he has other worries. Does she experience the gap between herself and others as something painful? Can it really be that Gina does not recognize prepositional relationships? Gina was noticeably more relaxed, and after a delicious lunch of pasta and homemade wine in their charming yellow house, we extracted bikes from their backyard shed and took off to visit Snug Harbor, a park a couple of miles away.

Bernardo, leading, kept an eye on Gina with a rearview mirror on his handlebar. Gina, in front of me, tailed Bernardo at a steady distance.

This was worrying to watch. We rode part of the way in the street, with the occasional car passing us. But Gina looked as engaged, confident and secure as I had yet seen her. She tracked Bernardo perfectly, staying in his jet-trail, following his path and his example, avoiding obstacles fixed and moving.

She clearly took much strength and safety from the father who rode before her. The only question is whether she can get that from others someday. This article was republished in Slate. By joining the discussion, you agree to our privacy policy. Spectrum: Autism Research News. All News Conference News Collections of articles from conferences. All Opinion Viewpoint Expert opinions on trends and controversies in autism research. All Features Deep Dive In-depth analysis of important topics in autism.

About Subscribe. Deep Dive In-depth analysis of important topics in autism. See All in Deep Dive. Photographs by Cristina Pye. Republish this article. Chasing a mystery: T he pizzas arrive, and as Bernardo doles out slices, we talk about Italy, wine, science, life — and Gina. She crushes me. Away in Rome: J ust before Christmas of , when Gina was 2, she got on a plane with her parents and her 6-year-old sister Sonia and flew to Rome, where Bernardo had snagged a one-year Fulbright fellowship teaching American literature and history.

But Westphal describes CDD as more of a global catastrophe in the brain—low-functioning autism by a different pathway. Gupta and Westphal were two of the lead researchers on a team composed of geneticists, clinicians, neuroimaging experts, and eye-tracking scientists to perform a neurogenetic analysis of CDD. They identified genetic mutations associated with it, mapped its pattern of abnormal brain activity through functional magnetic resonance imaging fMRI , and charted its social activity through eye tracking.

In every area, patients with CDD were compared to those with autism, both with intellectual disability and without, and to typically developing controls. The team hoped these data could help them understand what happens in the brains of kids like Dylan, and how similar it is to more common subtypes of autism. The genetic analyses showed important differences between CDD and most forms of autism. Not only were different genes involved, but so were the brain regions where these genes were active.

The genes most likely to be involved in CDD were expressed strongly in non-neocortical regions of the brain, which help control eye movements and attention to social information. ASD genes are more strongly expressed in neocortical regions. Another analysis showed that the pattern of expression of potential CDD genes had the most similarity to autism cases with a history of regression, suggesting that regression might have a distinctive genetic pattern.

The symptoms seen in CDD, this finding suggests, are likely caused by a genetic mechanism in the brain different from most other subtypes of autism. The team used non-sedated fMRI to see patterns of brain activity when the research participants looked at images of emotional faces a social stimulus and houses a neutral stimulus.

The study also, for the first time, included patients with intellectual disabilities in addition to their autism—a group that is underrepresented in imaging studies because it is difficult to get these patients to cooperate with the study protocols. The CDD cohort had an abnormal pattern of activity in nonneocortical brain regions when viewing faces versus houses, a departure from the abnormal pattern that people with high-functioning autism exhibit.

The low-functioning group had a pattern between those of the CDD and high-functioning autism groups. The researchers also found a surprising convergence between the genetic and neuroimaging tests—the regions that were abnormally overactive in people with CDD were the same regions where CDD candidate genes are most active.

Eye-tracking studies record what research participants look at when shown pictures or videos. When viewing faces, most of us look at the eyes, while high-functioning individuals with autism split their time between the mouth and eyes.

This difference is thought to explain some social skills deficits found in people with ASD. Because people with CDD are more severely affected than average, Gupta expected to find an abnormal eye-tracking pattern. Behavioural observations were conducted during a day stay in a free play setting with 5 other children, and through individualized assessments using the Psycho-Educative Profile and the Brunet-Lezine Scales. Scoring of the Child Autism Rating Scale was performed jointly by a psychiatrist, a psychologist, and a nurse at the end of the day period of observation.

In the area of social interaction: L. She was able to make eye contact, but only for a few seconds, mostly on her own initiative. She expressed very few facial emotions, and she communicated by screaming. She was not interested in other children, but did not avoid them, whereas she liked to be close to adults.

She was not interested in developing peer relationships. In the area of communication: Her language was limited to a few words yes, no, water , and she was not able to compensate by alternative modes of communication such as gesture or mime. She could not follow verbal instructions, nor imitate. She did not show interest in dolls, nor in pretend or symbolic play. In the area of behaviours, interests and activities: We noted a short attention span, and rapid shifts from one uncompleted activity to another.

She mainly engaged in low-grade repetitive activities, such as easy nesting games or playing with water. Incessant restlessness associated with clumsiness made her bump into objects or people and endanger herself because she failed to anticipate the consequences of her movements.

She reacted to minor changes in her environment or to transitions from one activity to another by a worsening of her agitation, and induced vomiting. We observed pervasive eating disorders, including merycism, pica, and induced vomiting. However, she never showed any aggressive behaviour, towards herself or others, and had neither stereotyped movements nor rituals of persistent preoccupation with parts of objects.

It was not possible to obtain a developmental profile with the Psycho-Educative Profile PEP-R [ 21 ] because of her agitation and lack of participation. Neuropsychomotor assessment using standardized batteries [ 23 ] revealed impairments and delays for global motor development, visuo-manual prehension coordination, posturo-motor and locomotion acquisitions static and dynamic balance.

She was unable to draw a stick figure or a circle. The agitation and gastrointestinal symptoms got worse. Therefore, we reintroduced treatment with risperidone 1 mg per day, with no effect. Risperidone was discontinued, and cyamemazine was introduced at low doses 10 mg , but her state did not improve. Her mother described the occurrence of 3 new episodes associating extreme fear and paleness without fever, separated by a few months, leading the neuropaediatrician to introduce a treatment with carbamazepine, despite a normal EEG.

Digestive investigations showed gastro-oesophageal reflux, treated with omeprazole. The induced vomiting, merycism and pica improved. However, the agitation was still very great, and the regression in language and autonomy were persistent.

By the time she was 10, she had completely lost her language abilities. She was extremely agitated, could not remain seated to eat. She still exhibited very frequent vomiting and merycism, would chew the sleeves of her pullover, pieces from jigsaw puzzles, and push them deep into her throat. She needed to wear diapers since she had completely lost toilet training, she would play with her dirty diapers and spread her faeces on the ground. She displayed sleep disorders, with difficulty falling asleep and frequent night-awakenings.

The agitation, eating disorders and sleep problems were stabilized with continuation of a treatment associating risperidone 2mg , cyamemazine 25mg , carbamazepine mg , and omeprazole 10mg.

However, her imitation and shared attention skills remained very limited. She continued to initiate the same repetitive activities, and paid little attention to other children. Physical examination revealed no dysmorphic features.

No auditory or visual impairment was found. EEG showed no seizure activity and there was no overt clinical seizure episode after the febrile seizure episodes at 5 years of age. The cerebral magnetic resonance imaging MRI scan at 8 years of age showed a thin corpus callosum in the posterior part, hyper intensity on T2-weighted images localized in the hippocampus, and sub-cortical hyperintensity on T2-weighted images localized in the temporal lobes bilateral temporal gliosis.

This was followed up with general and metabolic screening blood count and red cell parameters, blood urea, serum creatinine and electrolytes, liver function tests, thyroid function tests, levels of serum lactate, serum ammonia, serum lead, serum lactate and pyruvate, serum creatine and CPK, gas chromatography of blood and urine to screen for congenital metabolic disorders such as aminoacidaemia, organic acidaemia, and fatty acid oxidation disorders.

No abnormality was found. We then performed an array comparative genomic hybridization CGH analyses which revealed a 22q We report the case of a girl carrying a 22q The clinical features displayed by the girl strongly suggested the diagnosis of dementia infantilis, a developmental disorder described in 6 children by Heller in [ 24 ], characterized by 1 onset between 3 and 4 years of age after a period of apparently normal development, 2 a severe regression with the progressive loss or marked impairment of spoken language, loss of play, loss of social skills, and loss of bowel and bladder control, 3 a prodromal period of behavioural disruption with extreme agitation, fearfulness and possibly hallucinations and 4 , a poor outcome with severe intellectual deterioration.

Indeed, one of the most important features presented by this case is the regressive pattern of her symptoms, with the progressive loss after the age of 3 years of her developmental and socialization skills, leading to severe adaptive impairment at 10 years.

This developmental regression concerned not only the progressive loss of cognitive abilities such as language, socialization and attention, but also the loss of previously mastered automated functions: loss of toilet-training, pica, induced vomiting, merycism and sleep disorders. Furthermore, the regression was preceded in our patient by a prodromal phase characterized by behavioural disruption restlessness and excitement, extreme agitation, short attention span with rapid shifts from one uncompleted activity to another , and the occurrence of acute episodes of extreme fearfulness associated with motor and neuro-vegetative symptoms, sometimes in a context of fever.

The state of our patient progressively worsened after each episode. According to Westphal et al. These acute episodes were first interpreted as partial epileptic frontal seizures. However, no abnormality was recorded on waking EEG in our patient, but we could not obtain a resting EEG because of her agitation.

I many cases these characteristics will include autistic-like communication and language impairments and behaviour of a stereotypical, restricted or repetitive manner. Although the cause of autism are multi-factorial it is possible that some cases might be due to impaired development of parts of the brain at a crucial point in childhood for example through chemical imbalances or possibly some trauma.