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Background Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) is critical to the survival of these patients. While survival rates and short-term outcomes are known to be improved by HSCT, the long-term cognitive, adaptive and psychosocial functional outcomes of children with (MPSI-H) post-HSCT are not well documented. This manuscript focuses on retrospective long-term follow-up (7–33 years) of 25 MPSI-H patients, transplanted between 1986 and 2011. Results The median age at transplantation was 21 months (range 12–57 months). Except for one death, all successfully transplanted MPSI-H patients surviving at least 1 year after HSCT are alive to-date, with a median age of 21 years (range 8–36 years) at the last follow-up evaluation. A majority of HSCT grafts were bone marrow transplants (BMT), resulting in durable full chimerism in 18 (72%). Pre-HSCT, the onset of first symptoms occurred very early, at a median age of 3 months (range birth-16 months). The most prevalent symptoms before MPSI-H diagnosis involved progressive dysostosis multiplex; almost all patients suffered from hip dysplasia and thoracolumbar spine Kyphosis. Despite HSCT, considerable residual disease burden and ensuing corrective surgical interventions were observed in all, and at every decade of follow-up post HSCT. Late-onset psychiatric manifestations were significant (n = 17 patients; 68%), including depression in 13 patients at a median onset age of 18 years (range 13–31 years), hyperactivity and attention deficit disorder (n = 4), and multiple acute psychotic episodes (APE), independent of depression observed (n = 3) at a median onset age of 18 years (range 17–31 years). The adult Welscher Intelligence Scale results (n = 16) were heterogenous across the four scale dimensions; overall lower scores were observed on both working memory index (median WMI = 69.5) and processing speed index (median PSI = 65), whereas verbal comprehension index (median VCI = 79) and perceptual reasoning index (median PRI = 74) were higher. Conclusion With advanced treatment options, MPSI-H are living into 3rd and 4th decades of life, however not disease free and with poor adaptation. Residual disease (loss of mobility, limited gross and fine motor skills; low cognitive ability; suboptimal cardiopulmonary function, vision and hearing) negatively impacts the quality of life and psychosocial functioning of affected individuals.

Monolithic Active Pixel Sensors (MAPS) have been developed since the late 1990s employing silicon substrate with a thin epitaxial layer in which deposited charge is collected by disordered diffusion rather than by drift in an electric field. As a consequence the signal is small and slow, and the radiation tolerance is below the requirements for LHC experiments by factors of 100 to 1000. We developed fully depleted (D)MAPS pixel sensors employing a 150 nm CMOS technology and using a high resistivity substrate as well as a high biasing voltage. The development has been carried out in three subsequent iterations, from prototypes to a large pixel matrix comprising a complete readout architecture suitable for LHC operation. Full CMOS electronics is embedded in large deep n-wells which at the same time serve as collection nodes (large electrode design). The devices have been intensively characterized before and after irradiation employing lab tests as well as particle beams. The devices can cope with particle rates seen by the innermost pixel detectors of the LHC pp-experiments or as seen by the outer pixel layers of the planned HL-LHC upgrade. They are radiation hard to particle fluences of at least \\(10^{15}~\\mathrm{n_{eq}/cm^2}\\) and total ionization doses of at least 50 Mrad.

Depleted Monolithic Active Pixel Sensors (DMAPS) constitute a promising low cost alternative for the outer layers of the ATLAS experiment Inner Tracker (ITk). Realizations in modern, high resistivity CMOS technologies enhance their radiation tolerance by achieving substantial depletion of the sensing volume. Two DMAPS prototypes that use the same \"column-drain\" readout architecture and are based on different sensor implementation concepts named LF-Monopix and TJ-Monopix have been developed for the High Luminosity upgrade of the Large Hardon Collider (HL-LHC). LF-Monopix was fabricated in the LFoundry 150 nm technology and features pixel size of \\(50x250~\\mu m^{2}\\) and large collection electrode opted for high radiation tolerance. Detection efficiency up to 99\\% has been measured after irradiation to \\(1\\cdot10^{15}~n_{eq}/cm^{2}\\). TJ-Monopix is a large scale \\((1x2~cm^{2})\\) prototype featuring pixels of \\(36x40~\\mu m^{2}\\) size. It was fabricated in a novel TowerJazz 180 nm modified process that enables full depletion of the sensitive layer, while employing a small collection electrode that is less sensitive to crosstalk. The resulting small sensor capacitance (\\(<=3~fF\\)) is exploited by a compact, low power front end optimized to meet the 25ns timing requirement. Measurement results demonstrate the sensor performance in terms of Equivalent Noise Charge (ENC) \\(\\approx11e^{-}\\), threshold \\(\\approx300~e^-\\), threshold dispersion \\(\\approx30~e^-\\) and total power consumption lower than \\(120~mW/cm^2\\).

Depleted Monolithic Active Pixel Sensor (DMAPS) prototypes developed in the TowerJazz 180 nm CMOS imaging process have been designed in the context of the ATLAS upgrade Phase-II at the HL-LHC. The pixel sensors are characterized by a small collection electrode (3 \\(\\)m) to minimize capacitance, a small pixel size (\\(36.4 36.4\\) \\(\\)m), and are produced on high resistivity epitaxial p-type silicon. The design targets a radiation hardness of \\(110^15\\) 1 MeV n\\(_eq\\)/cm\\(^2\\), compatible with the outermost layer of the ATLAS ITK Pixel detector. This paper presents the results from characterization in particle beam tests of the Mini-MALTA prototype that implements a mask change or an additional implant to address the inefficiencies on the pixel edges. Results show full efficiency after a dose of \\(110^15\\) 1 MeV n\\(_eq\\)/cm\\(^2\\).

The recent R&D focus on CMOS sensors with charge collection in a depleted zone has opened new perspectives for CMOS sensors as fast and radiation hard pixel devices. These sensors, labelled as depleted CMOS sensors (DMAPS), have already shown promising performance as feasible candidates for the ATLAS Inner Tracker (ITk) upgrade, possibly replacing the current passive sensors. A further step to exploit the potential of DMAPS is to investigate the suitability of equipping the outer layers of the ATLAS ITk upgrade with fully monolithic CMOS sensors. This paper presents the development of a depleted monolithic CMOS pixel sensor designed in the LFoundry 150 nm CMOS technology, with the focus on design details and simulation results.

High Energy Particle Physics experiments at the LHC use hybrid silicon detectors, in both pixel and strip geometry, for their inner trackers. These detectors have proven to be very reliable and performant. Nevertheless, there is great interest in the development of depleted CMOS silicon detectors, which could achieve similar performances at lower cost of production and complexity. We present recent developments of this technology in the framework of the ATLAS CMOS demonstrator project. In particular, studies of two active sensors from LFoundry, CCPD_LF and LFCPIX, and the first fully monolithic prototype MONOPIX will be shown.

This work presents a depleted monolithic active pixel sensor (DMAPS) prototype manufactured in the LFoundry 150\\,nm CMOS process. DMAPS exploit high voltage and/or high resistivity inclusion of modern CMOS technologies to achieve substantial depletion in the sensing volume. The described device, named LF-Monopix, was designed as a proof of concept of a fully monolithic sensor capable of operating in the environment of outer layers of the ATLAS Inner Tracker upgrade in 2025 for the High Luminosity Large Hadron Collider (HL-LHC). This type of devices has a lower production cost and lower material budget compared to presently used hybrid designs. In this work, the chip architecture will be described followed by the characterization of the different pre-amplifier and discriminator flavors with an external injection signal and an iron source (5.9\\,keV x-rays).

Depleted monolithic active pixel sensors (DMAPS), which exploit high voltage and/or high resistivity add-ons of modern CMOS technologies to achieve substantial depletion in the sensing volume, have proven to have high radiation tolerance towards the requirements of ATLAS in the high-luminosity LHC era. Depleted fully monolithic CMOS pixels with fast readout architectures are currently being developed as promising candidates for the outer pixel layers of the future ATLAS Inner Tracker, which will be installed during the phase II upgrade of ATLAS around year 2025. In this work, two DMAPS prototype designs, named LF-MonoPix and TJ-MonoPix, are presented. LF-MonoPix was designed and fabricated in the LFoundry 150~nm CMOS technology, and TJ-MonoPix has been designed in the TowerJazz 180~nm CMOS technology. Both chips employ the same readout architecture, i.e. the column drain architecture, whereas different sensor implementation concepts are pursued. The design of the two prototypes will be described. First measurement results for LF-MonoPix will also be shown.

During the shutdown of the CERN Large Hadron Collider in 2013-2014, an additional pixel layer was installed between the existing Pixel detector of the ATLAS experiment and a new, smaller radius beam pipe. The motivation for this new pixel layer, the Insertable B-Layer (IBL), was to maintain or improve the robustness and performance of the ATLAS tracking system, given the higher instantaneous and integrated luminosities realised following the shutdown. Because of the extreme radiation and collision rate environment, several new radiation-tolerant sensor and electronic technologies were utilised for this layer. This paper reports on the IBL construction and integration prior to its operation in the ATLAS detector.