Floating-Harbor syndrome (FHS) is a rare genetic syndrome with limited cases reported in the medical literature. It is an autosomal dominant condition with affected individuals carrying a pathogenic variant of the SRCAP gene. FHS cases show individuals having consistent facial features and differing levels of intellectual disability, which can affect their ability to receive different anaesthetic modalities and have capacity to consent for dental treatment. This case report focuses on the clinical management of a young adult with FHS requiring dental care with different treatment modifications tailored to the patient\'s individual needs. Further research and awareness of this syndrome is required to fully understand its consistent oral findings and varying intellectual abilities, to ensure appropriate and timely treatment provision. MeSH: dentistry, Floating-Harbor syndrome (FHS), SRCAP gene, clinical management.

Augmentative and alternative communication (AAC) systems are often introduced to children with disabilities who demonstrate complex communication needs. As attending school is an essential part of these children\'s lives, it is important that they use their AAC system to communicate in the classroom. This study aimed to describe the nature of the use of AAC by students with developmental disabilities in the classroom.
This study was conducted in Malaysia. Six students were observed twice each in their classroom and their classroom interactions were video recorded. The video recordings were transcribed and coded for the presence of a communication event, the student\'s mode of communication and communication function, the communication partner involved, and access to the AAC system.
Contrary to past studies, most students in this study spontaneously initiated interaction almost as many times as they responded. They primarily communicated with gestures and verbalizations/vocalizations despite having been introduced to an AAC system. When students communicated using their AAC system, they mainly interacted with the teachers, and for the function of either behavioral regulation or joint attention. It was found that for 39% of communicative events, the student\'s aided AAC system was not within arm\'s reach.
The findings highlight the need for efforts to encourage students with complex communication needs to use AAC more frequently in their classroom to be able to communicate more effectively and for a wider range of communicative functions. Speech-language pathologists can work closely with teachers to provide the necessary support to these students.
Speech-language pathologists (SLPs) can provide ongoing support to school teachers to equip them with the necessary knowledge and skills to support the use of augmentative and alternative communication (AAC) in the classroom.SLPs can also focus on teaching students to use AAC for a variety of communication functions and with various partners rather than only adult communication partners.

Pitt-Hopkins syndrome is a rare genetic neurodevelopmental disorder characterized by intellectual disability, delayed motor development, and absent speech. Patients often show symptoms of respiratory dysrhythmia, including episodes of hyperpnea followed by apnea with cyanosis. These spells occur while awake and do not have ictal correlate on electroencephalogram (EEG). The episodes can become quite frequent and can be challenging to treat. We present a case of a teenage patient with Pitt-Hopkins syndrome who had very frequent apneic spells that responded well to treatment with topiramate after limited response to acetazolamide.

In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and epileptic encephalopathy presenting with some features suggestive of a Dravet-like syndrome. For genetic analyses, trio-based whole-exome sequencing and array comparative genomic hybridization were performed. Consequently, a de novo heterozygous missense variant was identified in exon 22 of the PUM1 gene: NM_001020658: c.3439C > T (p.Arg1147Trp). Upon thoroughly reviewing the existing literature, nine cases of PUM1 mutation-related epilepsy were identified, and their clinical features were summarized. A relationship between PUM1 mutation and clinical manifestations characteristic of a Dravet-like syndrome was proposed. To our knowledge, this is the first report of a patient with PUM1 mutation presenting with a Dravet-like syndrome.

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Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which codes for a transcriptional repressor protein. FOXP1 syndrome (FOXP1S) (OMIM #613670) is caused by FOXP1 gene deletions and mutations (nonsense, missense, and in-frame deletions). It is identified by the presence of intellectual disability with language impairment, with or without autistic features. This paper describes the case of a seven-year-old girl mainly presenting with autism spectrum disorder, language impairment, and intellectual disability. In addition, she also exhibited signs of attention deficit hyperactivity disorder. Whole-exome sequencing showed that she had a mutation in the FOXP1 gene; the variant revealed was FOXP1: NM_001244813 with a deleted segment (1152-1164) of exon 11. Subsequently, she was diagnosed with FOXP1 syndrome. In order to manage behavioral disturbance, risperidone was given, and she showed marked improvement. In this article, we report the characteristic features of attention deficits hyperactivity in addition to previously reported autism spectrum disorder with language impairment accompanied by intellectual disability caused by FOXP1 exon deletion. This study aims to provide a systematic, comprehensive presentation of a patient with a FOXP1 mutation to contribute to the existing literature on this subject.

There is evidence from two US states that people with intellectual and developmental disabilities (IDD) are at more severe risk during the COVID-19 pandemic. Research has not explored whether this increased risk is consistent across the US.
This study compared COVID-19 case-fatality rates among people with IDD in 11 states and the District of Columbia that are publicly reporting data.
Cumulative data reported through March 31 - April 13, 2021 were analyzed. Case-fatality rates and risk ratio with 95% confidence intervals for IDD settings were compared the overall case-fatality rate for the jurisdictions from Johns Hopkins\' Center for Systems Science and Engineering COVID-19 data.
Settings were reported as receiving any services, community or institutional residential services, or living in own/family home. Comparison of case-fatality rates between people with IDD and their respective jurisdiction populations demonstrates that case-fatality rates were consistently higher for people with IDD living in congregate residential settings (fifteen instances) and receiving 24/7 nursing services (two instances). Results were mixed for people with IDD living in their own or a family home (eight instances).
These findings highlight that people with IDD, especially those living in residential settings, are experiencing higher case-fatality rates from COVID-19 than the general population across multiple US jurisdictions. Short-term and long-term public health interventions addressing COVID-19 risks will not be able to properly address the needs of people with IDD until all states begin reporting COVID-19 outcomes for this population.

BACKGROUND: Providing emergent literacy intervention and assessing outcomes for children with low-incidence, complex disabilities with concomitant physical, cognitive, sensory, and communication impairments presents a significant challenge to researchers, educators, clinicians, and families alike.
OBJECTIVE: This study aimed to leverage advancements in commercially available eyetracking technologies to measure visual attention to print before and after a parentmediated print referencing intervention with a child with a severe, low incidence, congenital disability. Print referencing means drawing attention to the print on the page while reading.
METHODS: The single case study investigated a mother-daughter dyad who completed the protocol using eye-gaze technology, digital children\'s books, and a computer configured with software for observing and recording interactions that were shipped to the family\'s home and set up by the mother with remote support from a researcher.
RESULTS: Results demonstrate that the eye-tracker successfully captured the participant\'s eye-gaze. Furthermore, mean-level shifts in frequency of fixations demonstrates changes in visual attention to print after the parent introduced the print referencing strategy during reading.
CONCLUSIONS: Commercially available eye-trackers and digital libraries were successfully used by the parent-child dyad to record visual attention. Furthermore, remote support from a trained researcher was sufficient to support the parent through set-up, calibration, intervention, and implementation.

BACKGROUND: Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues.
METHODS: In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor.
CONCLUSIONS: This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

This case highlights the importance of nursing-directed interprofessional treatment and inpatient unit genetic testing to identify genetic syndromes that may potentiate psychiatric conditions.
A case study of a 10-year-old Caucasian male with a history of a congenital heart defect, hand malformation, and low academic functioning who was admitted to the child inpatient psychiatric unit for eloping from school, aggression, and possible psychotic symptoms. Data were collected using patient medical records and interprofessional evaluation from nursing, psychiatry, and occupational therapy.
The patient was treated with risperidone to manage psychotic symptoms. Dietary, occupational therapy, and scholastic plans were also implemented. After discharge, results of genetic microarray analysis revealed a Type 1 16p11.2 deletion.
The role of nursing, interprofessional collaboration, and access to consultation teams play a crucial role in patient care for early diagnosis and treatment. Inpatient genetic testing has the potential to quickly identify and diagnose previously unidentified symptom clusters, leading to early intervention, closer monitoring, and improved patient outcomes.