G. A. M. de Vaan

Recovery of immune function after cessation of maintenance therapy in acute lymphoblastic leukemia (ALL) of childhood

In previously healthy children, serum immunoglobulin levels at diagnosis of acute lymphoblastic leukemia (ALL) were entirely in the normal range. After antileukemic therapy had been given for 26–27 months, serum immunoglobulin levels were low. In 32 children these parameters could be followed for periods up to 3 years after cessation of therapy, the patients remaining in unmaintained remission.At cessation of therapy serum immunoglobulin levels were at the tenth centile of the normal range or slightly below. IgG promptly returned to normal levels and then remained in the normal range. IgA levels were restored much more slowly. Most striking was the slow and incomplete return of serum IgM to normal levels. Even after a follow-up of 3 years the mean was still subnormal. This was not accompanied by clinical signs of disturbed immunity. Our study points out that in assessing the long-term immunosuppressive effects of anticancer therapy the follow-up period must be sufficiently long.

15/17 translocation in acute promyelocytic leukaemia.

SummaryA translocation between a chromosome 15 and a chromosome 17 was found in the bone marrow of a 14-year-old boy who had clinical and laboratory symptoms of acute promyelocytic leukemia (APL). As far as we know, this is the sixth case of APL with 15/17 translocation to be reported in the literature. This observation gives further support to the hypothesis that there is an association between this chromosomal rearrangement and APL.

Pyoderma gangrenosum in acute myeloid leukaemia during immunosuppression

We describe a patient who developed pyoderma gangrenosum during the remission phase of acute myeloid leukaemia whilst receiving maintenance therapy with methotrexate and 6-mercaptopurine. The spontaneous resolution of these skin lesions following discontinuation of chemotherapy suggests that these drugs may be of major significance in the aetiology of pyoderma gangrenosum. Nevertheless, 27 months later, a relapse of the leukaemia followed. Although pyoderma gangrenosum occurred during clinical remission, we cannot rule out a synergism of leukaemia and chemotherapy in its pathogenesis.

Palmar flexion creases in childhood neoplasia.

About 90% of Caucasian individuals in the general population may observe two transverse palmar flexion creases when their fingers are slightly bent. A small minority may find in one hand a single transverse crease or the usual two creases, of which one seems to cut across the palm to the ulnar margin. Those unusual creases are called simian‐ or Sydney‐creases, respectively. Normal healthy people hardly ever observe them in both hands. We observed those unusual creases, however, in more than 50% of children suffering from different types of malignant neoplasia, quite often in both hands. The difference between patients and controls of similar ages is highly significant. Among patients with childhood acute lymphocytic leukemia the variant creases were mostly of the Sydney type. They most frequently occurred in those patients in whom the disease had become manifest at an early age. Since fathers as well as mothers of the patients showed significantly higher frequencies of unusual creases, the phenomenon seems to be a familial one. A most singular effect is the striking incidence of those creases in younger siblings of the patients. With regard to crease variance our data are essentially similar for lymphoproliferative disorders (ALL and NHML) and embryonic malignant tumors. This might be the first indication of a common host factor in patients with ALL or embryonic tumors occurring in early childhood. We have postulated that this factor may be a regulatory one associated with cellular growth and differentiation in early fetal palmar pads as well as with cell‐mediated immune response to early pediatric tumors. The observation of palmar flexion creases may prove to be rewarding in future studies of cellular defense mechanisms in young patients with neoplasia. Cancer 43:749–759, 1979.

Transient erythroblastopenia of childhood

In the period 1975–1983 22 patients, aged 4–36 months were seen with severe transient normochromic, normocytic anaemia caused by a transient erythroblastotopenia.In 20 patients bone marrow aspirations were obtained; they showed erythroblastopenia.In ten cases we observed young lymphoid cells, suggesting a diagnosis of acute lymphoblastic leukaemia. One patient suspected of a leukaemia, was studied in more detail.All patients showed reticulocytopenia. MCV and HbF were within normal range. During recovery reticulocytosis and higher levels of HbF were found. Except for blood transfusion in most patients, therapy (e.g. corticosteroids) was not necesssary. Spontaneous recovery is a feature of this kind of erythroblastopenia, contrasting with congenital hypoplastic anaemia.

Mild course of mumps in patients with acute lymphoblastic leukaemia

Few details exist on the course of mumps during cytostatic treatment. We therefore describe our observations on the course of mumps seen between 1974 and 1988 in eight children suffering from acute lymphocytic leukaemia (ALL). Our data suggest that in malignant disease the course is rarely severe and that the infection often remains subclinical, as in healthy children. Mumps was accidentally diagnosed by routine lumbar puncture in four of the eight patients. Literature data suggest that the intrinsic low cytopathological effect of the virus, together with a parallelism between T cell response and clinical severity, may explain the usual mild course in immunodepressed patients, contrasting with the severe course of measles and Varicella zoster.

Effect of Thymectomy on Myasthenia Gravis and Autoimmune Thrombocytopenic Purpura in a 13-Year-Old Girl

We report the association of myasthenia gravis (MG) and autoimmune thrombocytopenic purpura (AITP) in a 13-year-old girl. The co-existence of these autoimmune diseases is rare in adults and, to our knowledge, never described in children. In our patient thymectomy had a therapeutic effect on both MG and AITP, suggesting a altered T-cell function as a pathogenic factor of major importance in both affections.

THE APLASTIC PRESENTATION OF CHILDHOOD LEUKAMEIA

only one. Our patient numbers are at present too small to allow firm conclusions concerning the relationship between the numbers of OKT4+ and OKT8 + cells and clinical stage. Our results therefore differ substantially from those of Matutes et al (1981) who found reduced OKT4+ and normal or reduced OKT8+ cells in most patients. Also, we found no evidence of the expanded E+ non-T population reported by Matutes et al in many of their patients. Furthermore, we found a good correlation between E+ and OKTl 1 + cells (in seven patients mean E+ cells 77%, mean OKTll+ cells 79%). and did not observe the E+ OKT11cells recorded by Matutes et al. We are not clear why our results differ from those of Matutes rt al. The fact that more of our patients had received chemotherapy is unlikely to be the explanation since our results did not differ substantially in treated and untreated patients. The OKT4 antibody stains many cells very weakly and this, together with the fact that Matutes et al found many E+OKT11cells (OKT 11 stains the E receptor (Kamoun et al, 1981)) , raises the possibility that the low levels of OKT-staining cells observed by Matutes et al were attributable to technical factors. Our conclusion that many cases of B-CLL have a relative and absolute increase in OKT8 + cells provides evidence of increased suppressor activity in CLL and may be relevant to the immuneparesis so characteristic of the disease.

Autism Spectrum Disorders in People with Sensory and Intellectual Disabilities Symptom Overlap and Differentiating Characteristics

Autism Spectrum Disorders (ASD) are developmental disorders that people are burdened with for their whole life. They origin in childhood and are featured by restrictions in social and emotional development, communication, interests and motor skills [1]. People with au‐ tism are characterized by three major deficits as defined by the most recent version of diag‐ nostic and statistical manual of mental disorders (DSM-IV-TR). These deficits include qualitative impairments in social interaction, qualitative impairments in communication and restricted, repetitive and stereotyped patterns of behaviour [2]. Behaviours within these main components of ASD may differ per individual because they are expressed in unique ways for each individual. Variations can be found in the way, the intensity and the persever‐ ance with which the symptoms are expressed. Also the core characteristics may vary per in‐ dividual. Where skills, interests and intellectual levels differ between people, so do the characteristics of autism, only the main problem areas remain the same [3]. In the current chapter, not only autism as defined by DSM-IV-TR, but also all variations within the autistic spectrum will be included.

Behavioural assessment of autism spectrum disorders in people with multiple disabilities

BACKGROUND It is difficult to diagnose autism spectrum disorder (ASD) in people with a combination of intellectual and sensory disabilities because of overlap in behaviour. The ASD typical behaviours of people with combined intellectual and sensory disabilities are often caused by their disabilities and not by ASD. Current diagnostic tools are inadequate to differentiate between people with and without ASD when they have these combined disabilities, because tools lack norms for this population or are subjective, indirect or unable to adapt to the variety of disabilities that these people may have. Because giving a correct diagnosis is necessary for treatment and support, a new observational tool was developed to diagnose ASD in people with multiple disabilities, observation of autism in people with sensory and intellectual disabilities (OASID). METHOD Observation of autism in people with sensory and intellectual disabilities was tested on 18 participants with moderate to profound intellectual disabilities, one or dual sensory impairment, with and without ASD. Two independent experts diagnosed these participants as well in order to test the psychometric properties and differentiating abilities of OASID. RESULTS Observation of autism in people with sensory and intellectual disabilities showed high inter-rater reliability, internal consistency of scales and content and construct validity. OASID could differentiate people with and without ASD without overlap. CONCLUSIONS Observation of autism in people with sensory and intellectual disabilities could differentiate people with intellectual disabilities combined with sensory impairments, who clearly had or did not have signs of ASD. People with unclear signs of ADS scored in between those two groups with regard to their OASID scores. Psychometric properties of OASID are promising.