Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

The purpose of this study is to contribute to a deeper understanding about how placement discontinuities of children in foster care affect their learning. The aim is to find out more about their learning and what role school plays in their life. A life-world perspective is used and theories mainly developed by Alfred Schütz (2002) build the theoretical framework. The empirical research is mainly based on narratives of a pair of twins at 19 years of age, who agreed to share their life stories and experiences of their time in school. Meetings were arranged separately with Alex, the boy, and Helena, the girl, both eager to participate. They felt that their stories could contribute to knowledge. The stories show that placement discontinuities in their early childhood made memories and their perspective of time blurry. They both suffered severe neglect in two of their foster care placements. School offered them a safe place throughout their adolescent years. However, despite this, they are critical to the teachers who saw that they suffered neglect at home but never acted upon that knowledge. Hence their first-hand experiences suggest that teachers, considered important in earlier research studies, are not as important as friend made or the daily routines that provide certain security in an otherwise uncertain life. The social services didn’t listen or support them. Alex and Helena felt that they had to take care of themselves. Their stories show that both of them are goal-oriented and that they highly value a good education. This is evident since they have always taken responsibility to complete set homework and to make school a functional place where they have also learned to know themselves. Furthermore, it is obvious that the twins have played a tremendous role for each other when their life-world time after time has changed. Alex and Helena’s stories and experiences can give the social services a deeper understanding of what lies behind the statistics. A teacher, who listens, shows support and has ambitious expectations regarding the children’s academic performance, has been confirmed in previous research to be of significant importance. In addition, the study shows that teachers should learn more about children in foster care. A life-world perspective and life-world theories can contribute to an alternative point of view regarding learning in life-world discontinuities. Learning can be reflected on by using Schütz theory about “strangers” as a way of understanding learning in a wider range, especially when there are discontinues in the life-world. The reflections made in this study point out the possibility that schools, as organizations, seem to have independent cultures that can be transferred between one another. In fact there seems to be certain variables that are the same for schools in general and hence it is of significant value to recognize school as a regional life-world. The expectations of how you act as a student and among friends are important for the sense of belonging. It is possible that Alex and Helena succeeded in school partly because some of the things they learned about the first school could be transferred to their new school. The study contributes with two new concepts; “livsvärldsbrott”- life-world-disruption and “livsvärldsbevarande”- life-world-preservation

Brainstem auditory evoked responses in infants and children with AIDS

Brainstem auditory evoked responses were measured in 16 infants and children with acquired immunodeficiency syndrome (AIDS) and in 9 normal infants and children. Two stimulation rates were used: a conventional rate of 10 Hz and a high rate of 50 Hz. Latencies of waves III, IV, and V on the left were significantly longer in the AIDS group when a stimulation rate of 10 Hz was used. With a higher stimulation rate of 50 Hz, significant differences between the two groups occurred in the latencies of waves I, III, and V bilaterally, but there were no significant differences in the interpeak latencies. A measure of the differential effect of the increasing stimulus rate on the two groups was significant for wave I latency and for I–III and I–V interpeak latencies on the left, revealing that increasing stimulation rate prolongs these measures more in the AIDS group. Increased brainstem auditory evoked response stimulation rate may unmask abnormalities in infants and children with AIDS that are not observed when the lower stimulation rate is used

Multiple ischemic infarcts in a child with AIDS, varicella zoster infection, and cerebral vasculitis

A 4 1 2 - year-old girl with acquired immunodeficiency syndrome and prolonged varicella zoster virus skin infection developed multiple ischemic strokes and radiologic and histopathologic evidence of central nervous system vasculitis. Typical features of acquired immunodeficiency syndrome encephalitis were not present and there was no evidence of vasculitis outside the nervous system. Central nervous system vasculitis probably resulted from varicella zoster virus infection that persisted because of immunodeficiency. This acquired immunodeficiency syndrome complication has only rarely been described in adults and to our knowledge has not been described in children

In the nose, not the sella: Case report of an ectopic pituitary adenoma

Background and importance: Ectopic pituitary adenomas presenting in the nasal and paranasal sinuses are very rare. We report a patient with a large ectopic nonfunctioning pituitary macroadenoma involving the nasal passageways, ethmoid sinus, and extending through the cribriform plate extradurally to the anterior fossa with no involvement of the sella turcica. The patient presented with epistaxis and denied any visual disturbances or other associated clinical presentations that would demonstrate extensive cranial nerve involvement. Ectopic pituitary adenomas should be considered in the differential diagnosis of a nasal mass involving the nasal sinuses, even if there is no communication with the sella. Clinical presentation: The patient is a 46-year-old male who presented with complete nasal obstruction. MRI revealed a large bilateral nasal mass extending into the anterior fossa through the cribriform plate. On nasal endoscopy, the patient was found to have a large mass occluding the entire nasal cavity. Subsequently, an endoscopic endonasal resection was performed. Conclusion: This case represents a rare presentation of an ectopic pituitary adenoma. The extensive tumor involvement of the nasal passageways, ethmoid sinuses, and the anterior fossa with the absence of cranial nerve involvement are notable. Histopathologic confirmation of the ectopic pituitary tumor was made after complete endoscopic endonasal removal

Magnetic resonance spectroscopy in childhood AIDS encephalopathy

Twenty-five children with acquired immunodeficiency syndrome (AIDS) underwent cranial magnetic resonance imaging and proton magnetic resonance spectroscopy. Patients were divided into 2 groups based on clinical parameters: encephalopathy and nonencephalopathy. N-acetyl aspartate/creatine ratios were compared between the 2 groups and to control data. Spectra were obtained for 2 volumes of interest: the basal ganglia region and the white matter. The mean basal ganglia region ratio for the AIDS encephalopathy patients (n = 8) was 1.12 and the ratio for the AIDS nonencephalopathy patients (n = 17) was 1.48. The ratio for the 9 controls was 1.57. The encephalopathy group had a significantly lower ratio than both the control ( P < .001) and the AIDS nonencephalopathy group ( P < .002). The mean white matter ratio for the encephalopathy group (n = 8) was 1.47 and for the AIDS nonencephalopathy group (n = 13) was 1.82 with a control (n = 6) ratio of 1.82. The encephalopathy patients had a lower white matter ratio than the nonencephalopathy ( P < .05) patients but the ratio was not different than controls ( P < .11). It is concluded that N-acetyl aspartate/creatine ratios are reduced in childhood AIDS encephalopathy and proton magnetic resonance spectroscopy may be helpful in defining brain human immunodeficiency virus-1 infection. However, further longitudinal studies are necessary to determine the sensitivity and specificity of this technique

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Abstract Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS